A few years ago, one of us (Ian) was lucky enough to be invited to visit the N.I. Vavilov Institute of Plant Industry in St Petersburg, Russia. Every plant breeder or geneticist knows of Nikolai Vavilov and his ceaseless energy in collecting important food crop varieties from all over the globe, and his application of genetics to plant improvement.

Nikolai Vavilov was pilloried because he wasnt a political favourite in Soviet Russia. Library of Congress. New York World-Telegram & Sun Collection

Vavilov championed the idea that there were Centres of Origin (or Diversity) for all plant species, and that the greatest variation was to be found in the place where the species evolved: wheat from the Middle East; coffee from Ethiopia; maize from Central America, and so on.

Hence the Centres of Origin (commonly known as the Vavilov Centres) are where you should start looking to find genotypes the set of genes responsible for a particular trait with disease resistance, stress tolerance or any other trait you are looking for. This notion applies to any species, which is why you can find more human genetic variation in some African countries than in the rest of the world combined.

By the late 1920s, as director of the Lenin All-Union Academy of Agricultural Sciences, Vavilov soon amassed the largest seed collection on the planet. He worked hard, he enjoyed himself, and drove other eager young scientists to work just as hard to make more food for the people of the Soviet Union.

However, things did not go well for Vavilov politically. How did this visionary geneticist, who aimed to find the means for food security, end up starving to death in a Soviet gulag in 1943?

Heroic science?

Enter the villain, Trofim Lysenko, ironically a protg of Vavilovs. The notorious Vavilov-Lysenko antagonism became one of the saddest textbook examples of a futile effort to resolve scientific debate using a political approach.

Lysenkos theories went against the latest science, but prevailed due to politics. Wikimedia

Lysenkos name leapt from the pages of history and into the news when Australias Chief Scientist, Alan Finkel, mentioned him during a speech at a meeting of chief scientists in Canberra this week.

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The Tragic Story Of Soviet Genetics Shows The Folly Of Political Meddling In Science - IFLScience (blog)

Genomes in flux: New study reveals hidden dynamics of bird and mammal DNA evolution Science Daily In order to test the hypothesis, his team needed to quantify something that wasn't there, the amount of DNA lost over many millenia. Feschotte and the study's lead author Aurlie Kapusta, Ph.D., a research associate in human genetics, developed methods ...

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Genomes in flux: New study reveals hidden dynamics of bird and mammal DNA evolution - Science Daily

If you feel youre too short or too tall you can blame your genes. And it looks like theres plenty of blame to go around.

A study in Naturehas identified dozens of infrequently occurring genetic variants that are associated with human height to a moderate or large degree, some of them carrying an influence of up to 2 centimeters (more than of an inch). A number of the DNA elements are tied to genes already known to affect growth, such as those affecting bones and hormones, but others represent new processes involved in growth and height. That latter group could potentially lead scientists to new treatments for growth disorders.

Read: Technology To Change Genes Could End Tuberculosis

In the context of precision medicine, the results also bring hope to understand the genetic basis of complex diseases such as diabetes or schizophrenia, according to the Swiss Institute of Bioinformatics. The idea is that if we can understand the genetics of a simple human trait like height, we could then apply this knowledge to develop tools to predict complex human diseases, researcher Zoltn Kutalik said in the institutes statement.

According to SIB, the research relied on the international effort of more than 300 scientists and pulled DNA data from more than 700,000 people.

Your body might contain genes that can add up to 2 centimeters to your height. Pixabay, public domain

While previous research has fingered hundreds of genetic variants for playing a role in height, the Nature study notes that those variants are much more common, butplay only a marginal role in a persons measurement. The newly discovered variants have greater than 10 times the average effect of common variants.

While DNA plays the biggest role in how tall we are, our diet and our environment also influence how we measure up. For instance, Scientific Americannotes that protein is the most important nutrient for final height. Minerals such as calcium, vitamin A and vitamin D are also significant. Because of this, malnutrition in childhood is detrimental to height.

Source: Marouli E, Graff M, Medina-Gomez C, et al. Rare and low-frequency coding variants alter human adult height. Nature. 2017.

See also:

Genes Tell Us Whether Youll Drop Out of School

How a Blood Transfusion Changes Your DNA

How Evolution Will Change Our Bodies

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Why You Are Short (Or Tall): Human Genetics, Explained - Medical Daily

Medical College of Wisconsin names new director for human genetics center Milwaukee Business Journal At the Mayo college in Rochester, Minn., Urrutia is a professor in the departments of biochemistry and molecular biology, biophysics and medicine. He is director of epigenomics education and academic relationships in the epigenomics program of the Mayo ... and more »

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Medical College of Wisconsin names new director for human genetics center - Milwaukee Business Journal

February 6, 2017 Credit: NIH

Evolution is often thought of as a gradual remodeling of the genome, the genetic blueprints for building an organism. But in some instance it might be more appropriate to call it an overhaul. Over the past 100 million years, the human lineage has lost one-fifth of its DNA, while an even greater amount was added, report scientists at the University of Utah School of Medicine. Until now, the extent to which our genome has expanded and contracted had been underappreciated, masked by its relatively constant size over evolutionary time.

Humans aren't the only ones with elastic genomes. A new look at a virtual zoo-full of animals, from hummingbirds to bats to elephants, suggests that most vertebrate genomes have the same accordion-like properties.

"I didn't expect this at all," says the study's senior author Cdric Feschotte, Ph.D., professor of human genetics. "The dynamic nature of these genomes had remained hidden because of the remarkable balance between gain and loss."

Previous research had shown that genome sizes vary widely across different species of insects or plants, a telltale sign of fluctuation. This survey is the first to compare a diverse array of warm-blooded vertebrates, 10 mammals and 24 birds altogether. The study appears online in Proceedings of the National Academies of Sciences (PNAS) during the week of Feb. 6.

Trimming for Takeoff

When evolution repeats itself, there's usually a good reason. For most vertebrates it's not immediately apparent why genome deletions and add-ons typically go hand-in-hand. For flying animals, however, there could be a clue.

Feschotte's foray into the field began five years ago after his research had turned up a paradox. His group and others had found that the genomes of bats were littered with small pieces of DNA, called transposons, that had invaded and copied themselves throughout the flying mammals' genetic material. In particular, this massive transposon amplification had expanded the genome of a species called the microbat by 460 megabases, more genetic material than there is in a pufferfish. Yet the overall size of the bat's genome had remained relatively small in comparison to other mammals, suggesting that while transposons added new DNA, old DNA must have been removed somehow.

"These data begged the question: where did the old DNA go?" says Feschotte. In order to keep their genomes trim, he reasoned, these animals must have been good at jettisoning DNA.

In order to test the hypothesis, his team needed to quantify something that wasn't there, the amount of DNA lost over many millenia. Feschotte and the study's lead author Aurlie Kapusta, Ph.D., a research associate in human genetics, developed methods to extrapolate the amount of DNA that vanished by comparing genome sizes from present day animals to that of their common ancestors.

As they suspected, the microbat lost more DNA over time - three times as much - than it had gained since its divergence from a mammalian ancestor. This bat's cousin, the megabat, slimmed down its genome even more, losing eight times more than had been added.

The findings were a first clue that mammalian genomes were more dynamic than previously thought. But more than that, the data fit in nicely with an idea that scientists had been bantering around for a while. Animals that fly have smaller genomes. One reason could be that the metabolic cost of powered flight imposes a constraint on genome size.

Indeed, expanding the survey to include the bats' compatriots of the skies: woodpeckers, egrets, hummingbirds, and other birds, showed that the genome dynamcis of the two flying mammal species was more like that of the birds than the land-bound mammals. While most mammals trended toward an equilibrium between the amounts of DNA gained and lost over deep evolutionary time, the bats skewed toward shedding DNA over the same time frame.

The biological factors underlying the differences in genome dynamics observed across species are likely to be complex and remains to be explored. But whether streamlining genome content may have allowed flying animals to get off the ground is an intriguing proposal worth investigating, says Feschotte.

"If you look at small parts of the genome, or only one time point, you don't see how the whole genome landscape has changed over time," says Kapusta. 'You can see so much more when you step back and look at the fuller picture."

The work was supported by the National Institutes of Health, and will publish as "Dynamics of genome size evolution in birds and mammals" in PNAS on Feb. 6, 2017.

Explore further: First genome sequence of Amur leopard highlights the drawback of a meat only diet

More information: Dynamics of genome size evolution in birds and mammals, PNAS, http://www.pnas.org/cgi/doi/10.1073/pnas.1616702114

The first whole genome sequence of the Far Eastern Amur leopard is published in the open access journal Genome Biology, providing new insight into carnivory and how it impacts on genetic diversity and population size.

In rare instances, DNA is known to have jumped from one species to another. If a parasite's DNA jumps to its host's genome, it could leave evidence of that parasitic interaction that could be found millions of years latera ...

(PhysOrg.com) -- Researchers at The University of Texas at Arlington have found the first solid evidence of horizontal DNA transfer, the movement of genetic material among non-mating species, between parasitic invertebrates ...

Researchers from the University of Bristol have uncovered one of the reasons for the evolutionary success of flowering plants.

(Phys.org) It has long been known that birds and bats have small genomes, but the cause was uncertain. Now researchers at the University of New Mexico have shown that the genome shrinks over evolutionary time in species ...

In a contribution to an extraordinary international scientific collaboration the University of Sydney found that genomic 'fossils' of past viral infections are up to thirteen times less common in birds than mammals.

To the average plant-eating human, the thought of a plant turning the tables to feast on an animal might seem like a lurid novelty.

The widely condemned practice of ceremonial genital mutilation among girls and young women follows an evolutionary logic, according to a provocative study published Monday.

Evolution is often thought of as a gradual remodeling of the genome, the genetic blueprints for building an organism. But in some instance it might be more appropriate to call it an overhaul. Over the past 100 million years, ...

Conventional wisdom holds that sharks can't be harvested in a sustainable manner because they are long-lived animals. It takes time for them to reproduce and grow in numbers. But, researchers reporting in Current Biology ...

The ability of malaria parasites to persist in the body for years is linked to the expression of a set of genes from the pir gene family, scientists from the Francis Crick Institute and the Wellcome Trust Sanger Institute ...

A grisly method by which bacteria dispatch their distant relatives also creates conditions in which the attackers can thrive, research has found.

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Genomes in flux: New study reveals hidden dynamics of bird and mammal DNA evolution - Phys.Org

Ever wonder how much of your height you inherited from your parents?

A large-scale genetic study published recently in the journal Natureis helping shed some light on the factors that determine whether a person grows to be 6-feet-1 or 5-feet-2.

While scientists already had a good idea of the most common genetic factors that contribute to height, the new findings uncover a number of rare genetic alterations that can play a surprisingly major role in human growth.

Using data from the Genetic Investigation of Anthropometric Traits consortium (a group also known as GIANT), scientists from the Broad Instituteat MIT and Harvard analyzed genetic information from more than 700,000 people, discovering 83 DNA changes that play a part in determining a persons height.

In their previous work, the same research team identified nearly 700 common genetic factors linked with height. Now, theyve identified a number of rare genetic variants for human growth that have an even larger effect than most common factors. For some people, these rare DNA changes may account for height differences of up to a full inch.

Overall, common variants still contribute more to height than rare variants, Dr. Joel Hirschhorn, the studys lead author and a professor of pediatrics and genetics at Boston Childrens Hospital and Harvard Medical School, told The Huffington Post. But, for the person who happens to carry one of the rare variants, the impact can be much greater than for common variants. For the variants we looked at, this was up to almost an inch... as opposed to a millimeter or less for the common variants.

Using a new technology called the ExomeChip, the researchers were able to scan the genomes of large populations to find rare markers that correlated with a particular height. They identified 51 uncommon variants found in less than 5 percent of people, and 32 rare variants found in less than 0.5 percent of the population.

With the addition of these uncommon variants, geneticists can now account for 27 percent of the genetics determining height up from 20 percent based on earlier studies.

Heritability is by far the largest factor contributing to individual height.

Today, in places where most people get enough nutrition in childhood to grow to their potential, about 80 percent or more of the variability in height is due to genetic factors that we inherit from our parents, Hirschhorn explained.

According to the studys authors, this method of testing rare genetic variants could be used to investigate uncommon DNA changes involved in other aspects of human health.

Looking at rare variants in genes was helpful in understanding the biology of human growth, Hirschhorn said. With a big enough study, similar approaches could be valuable in understanding the biology of many diseases, which could help guide better treatments.

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Scientists Discover 83 Genetic Mutations That Help Determine Your Height - Huffington Post

Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial features, developmental delays, cognitive impairment and heart problems. The findings could help point the way toward personalized precision therapies for these conditions.

Although not widely known, RASopathies are among the most common genetic disorders, affecting approximately one child out of 1,000. RASopathies are caused by mutations within the RAS pathway, a biochemical system cells use to transmit information from their exterior to their interior.

"Human development is very complex and it's amazing that it goes right so often. However, there are certain cases where it does not, as with RASopathies," said Granton Jindal, co-lead author of the two studies. Both Jindal and the other co-lead author, Yogesh Goyal, are graduate students in theDepartment of Chemical and Biological Engineeringand theLewis-Sigler Institute for Integrative Genomics (LSI). Jindal and Goyal do their thesis research in the lab ofStanislav Shvartsman, professor of chemical and biological engineering and LSI.

"Our new studies are helping to explain the mechanisms underlying these disorders," Jindal said.

These studies were published this year, one in the Proceedings of the National Academy of Sciences (PNAS) and the other in Nature Genetics online. The researchers made the discoveries in zebrafish and fruit flies animals commonly used as simplified models of human genetics and Jindal and Goyal's specialties, respectively. Due to the evolutionary similarities in the RAS pathway across diverse species, changes in this pathway would also be similar. Thus, it is likely that significant parts of findings in animals would apply to humans as well, although further research is needed to confirm this.

The first paper published Jan. 3in PNAS presented a way to rank the severity of different mutations involved in RASopathies. The researchers introduced 16 mutations one at a time in developing zebrafish embryos. As each organism developed, clear differences in the embryos' shapes became evident, revealing the strength of each mutation. The same mutant proteins produced similarly varying degrees of defects in fruit flies. Some of the mutations the researchers tested were already known to be involved in human cancers. The researchers noted that these cancer-related mutations caused more severe deformations in the embryos, aligning with the medical community's ongoing efforts to adapt anti-cancer compounds to treat RASopathies.

"Until now, there was no systematic way of comparing different mutation severities for RASopathies effectively," Goyal said.

Jindal added, "This study is an important step for personalized medicine in determining a diagnosis to a first approximation." The study therefore suggested a path forward to human diagnostic advances, potentially enabling health care professionals to offer better diagnoses and inform caretakers about patients' disease progression.

The study went further and examined the use of an experimental cancer-fighting drug being investigated as a possible way to treat RASopathies. The researchers demonstrated that the amount of medication necessary to correct the developmental defects in the zebrafish embryos corresponded with the mutation's severity more severe mutations required higher dosages.

The more recent paper, published online by Nature Genetics Feb. 6, reports an unexpected twist in treatment approach to some RASopathies. Like all cellular pathways, the RAS pathway is a series of molecular interactions that changes a cell's condition. Conventional wisdom has held that RASopathies are triggered by overactive RAS pathways, which a biologist would call excessive signaling.

The Nature Genetics study, however, found that some RASopathies could result from insufficient signaling along the RAS pathway in certain regions of the body. This means that drugs intended to treat RASopathies by tamping down RAS pathway signaling might actually make certain defects worse.

"To our knowledge, our study is the first to find lower signaling levels that correspond to a RASopathy disease," Goyal said. "Drugs under development are primarily RAS-pathway inhibitors aimed at reducing the higher activity, so maybe we need to design drugs that only target specific affected tissues, or investigate alternative, novel treatment options."

The Nature Genetics study also found that RAS pathway mutations cause defects by changing the timing and specific locations of embryonic development. For example, in normal fruit fly cells, the RAS pathway only turns on when certain natural cues are received from outside the cell. In the mutant cells, however, the RAS pathway in certain parts of fly embryo abnormally activated before these cues were received. This early activation disturbed the delicate process of embryonic development. The researchers found similar behavior in zebrafish cells.

"Our integrative approach has allowed us to make enormous progress in understanding RASopathies, some of which have just been identified in the last couple of decades," Shvartsman said. "With continued steps forward in both basic and applied science, as we've shown with our new publications, we hope to develop new ideas for understanding and treatment of a large class of developmental defects."

Princeton co-authors of the two papers includeTrudi Schpbach, the Henry Fairfield Osborn Professor of Biology and professor ofmolecular biology, andRebecca Burdine, an associate professor of molecular biology, as well as co-advisers to Goyal and Jindal; Alan Futran, a former graduate student in the Department of Chemical and Biological Engineering and LSI; graduate student Eyan Yeung of the Department of Molecular Biology and LSI; Jos Pelliccia, a graduate student in the Department of Molecular Biology; seniors in molecular biology Iason Kountouridis and Kei Yamaya; and Courtney Balgobin Class of 2015.

Bruce Gelb, a pediatric cardiologist specializing in cardiovascular genetics and the director of the Mindich Child Health and Development Institute at the Mount Sinai School of Medicine in New York, described the two new studies as "wonderful" in advancing the understanding of altered biology in RASopathies and developing a framework for comparing mutation strengths, bringing effective treatments significantly closer.

"At this time, most of the issues that arise from the RASopathies are either addressed symptomatically or cannot be addressed," Gelb said. "The work [these researchers] are undertaking could lead to true therapies for the underlying problem."

The paper, "In vivo severity ranking of Ras pathway mutations associated with developmental disorders," was published Jan. 3 in the Proceedings of the National Academy of Sciences. The paper, "Divergent effects of intrinsically active MEK variants on developmental Ras signaling," was published on Feb. 6 in Nature Genetics online. The research for both papers was supported in part by the National Institutes of Health and the National Science Foundation.

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Studies point way to precision therapies for common class of genetic disorders - Princeton University

It sounds like a godsend for America's opioid epidemic: genetic tests that can predict how a patient will respond to narcotic painkillers, as well as an individual's risk of misuse, addiction, and potentially deadly side effects.

Proove Biosciences of Irvine, Calif., claims its "opioid response" and "opioid risk" tests are the only precision medicine tools on the market to do all that, giving doctors information "to guide opioid selection and dosage decisions as well as treat side effects."

But while the concept is captivating, addiction researchers say it is not yet possible to use genetic variation to gauge the risk of drug abuse. And ECRI Institute, a Plymouth Meeting nonprofit center that evaluates medical technology, says Proove has not published independently reviewed studies to support its claims.

"We cant say it doesnt work. All we can say is, theres no evidence it does," said ECRI research analyst Jeff Oristaglio.

In an interview, Proove CEO Brian Meshkin defended his five-year-old products, which he said retail for $1,000 a test and were used by about 400 doctors last year in treating 50,000 patients. He said he expects scientific journals to publish results from studies "within the next six months." Three clinical trials of the opioid response test are ongoing.

Consumers may assume that such high-tech genetic tests have to demonstrate safety and effectiveness to win regulatory approval, but they do not. Even though these complex diagnostics use the latest gene-sequencing and data-crunching techniques, they can come to market under 1988 federal regulations designed to ensure the quality of clinical laboratories.

Two years ago, the U.S. Food and Drug Administration proposed a new framework for overseeing "lab-developed tests" that would take into account their complexity and riskiness, because inaccurate or false results can harm patients. But the agency withdrew the controversial proposal after the November election, saying it needed "to continue to work with stakeholders, our new administration, and Congress."

Proove is one of many companies in the fast-growing genetic-susceptibility testing market, a multi-billion industry built on trying to foresee and thus, forestall disease, disability, and death.

Opioid-related deaths have become an urgent public-health crisis. Every day, on average, 3,900 people start abusing prescription painkillers, 580 graduate to cheaper heroin, and 78 die of a narcotic overdose, according to federal data.

In theory, genetics provides an opportunity to reduce this toll. Researchers have linked a predisposition to opioid dependency to gene variants involved in the brain's signaling of reward and pleasure. Addictive behavior, particularly alcohol abuse, is known to run in families.

But addiction experts say risky behavior involves the largely unpredictable interplay of environmental, cultural, and biological factors.

"It is hard to conceive of a genetic test or a genetic score that would be valuable as a predictor of opiate abuse or addiction in general," said Michael Vanyukov, a University of Pittsburgh professor of pharmaceutical sciences, psychiatry and human genetics.

Vanyukov, who wasn't familiar with Proove's products, said heredity plays a relatively small role in determining variation in addiction risk, while choices and perceptions can play a big role. "If the individual is informed of, say, a 'low' risk score, this very piece of information will change the risk. The error of a genetic score is likely to be great, and reliance on it in practice may be dangerous."

Psychiatrist Charles OBrien, founding director of the University of Pennsylvania's Center for Studies of Addiction, was also unfamiliar with Proove's test, but echoed that sentiment: "I could not in good conscience recommend that someone spend money on these tests."

O'Brien's own center recently identified gene variants associated with response to naltrexone, a drug that blocks the intoxicating effects of alcohol. But when the center studied alcoholics on naltrexone, strong and weak responders had the same number of heavy drinking days.

"We were very disappointed because we're all looking for precision medicine," O'Brien said.

Proove's tests analyze DNA from a cheek swab. The opioid risk test gives the patient a score low, moderate, or high risk of opioid abuse that is based on detecting variants in 12 genes, combined with clinical information such as a history of depression. The company's website claims the algorithm is 93 percent accurate.

But when ECRI scientists looked to validate that claim, all they could find were brief summaries of two studies that the company presented at medical conferences. One studyof 290 patients compared the Proove risk test with the "opioid risk tool," a standard, one-minute screening questionnaire that doctors use to ask chronic pain patients about risk factors such as a history of mental illness or substance abuse.

"We cannot determine ... whether the test performs better or worse than the opioid risk tool in predicting opioid misuse," ECRI concluded.

Insurance plans either consider Proove's tests unnecessary or have no specific policies, ECRI found, although Meshkin said insurers are covering the cost "on a case-by-case basis."

"At some point, you've got to stop and produce the evidence if you want people to pay," said Diane Robertson, director of ECRI's health technology assessment service. "Why would anyone want to use something if there is no evidence that it has benefit?"

Published: February 6, 2017 10:09 AM EST The Philadelphia Inquirer

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Genetic test to predict opioid risk lacks proof, experts say - Philly.com

Genetic study uncovers potential new treatments for inflammatory ... Science Daily Researchers have studied over ten million DNA variations and found new links between the human genome and inflammation tracers. The study uncovered new ... and more »

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Genetic study uncovers potential new treatments for inflammatory ... - Science Daily

The Department of Human Genetics is dedicated to basic scientific research in human genetics and genetic disease, as well as the training of the next generation of scientists and health care providers.

Our faculty explore three broad areas of human genetics: molecular genetics, genetic disease, and statistical/population genetics. Within molecular genetics, research groups study DNA repair and recombination, genome instability, gene function and regulation, epigenetics, RNA modification and control, and genomic systems. Research in human genetic disease emphasizes the genetics of development, neurogenetics, stem cell biology, medical genetics, reproductive sciences, and the genetics of cancer. Evolutionary and population genetics research includes statistical tools for genetics, genetic epidemiology, and genetic mapping of complex traits and diseases.

We invite you to explore our faculty, students, graduate programs, courses, and events/seminars.

Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S, Girisha KM. Autosomalrecessive spinocerebellar ataxia 20: Report of a new patient and review ofliterature. Eur J Med Genet. 2016 Nov 29. pii: S1769-7212(16)30338-X. doi:10.1016/j.ejmg.2016.11.006. [Epub ahead of print] PubMed PMID: 27913285.

Oprescu SN, Griffin LB, Beg AA, Antonellis A. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods. 2016 Nov 20. pii:S1046-2023(16)30454-6. doi: 10.1016/j.ymeth.2016.11.013. [Epub ahead of print] Review. PubMed PMID: 27876679.

Garay PM, Wallner MA, Iwase S. Yin-yang actions of histone methylationregulatory complexes in the brain. Epigenomics. 2016 Dec;8(12):1689-1708. PubMed PMID: 27855486.

Gopinath C, Law WD, Rodrguez-Molina JF, Prasad AB, Song L, Crawford GE,Mullikin JC, Svaren J, Antonellis A. Stringent comparative sequence analysisreveals SOX10 as a putative inhibitor of glial cell differentiation. BMCGenomics. 2016 Nov 7;17(1):887. PubMed PMID: 27821050; PubMed Central PMCID:PMC5100263.

Ren YY, Koch LG, Britton SL, Qi NR, Treutelaar MK, Burant CF, Li JZ.Selection-, age-, and exercise-dependence of skeletal muscle gene expressionpatterns in a rat model of metabolic fitness. Physiol Genomics. 2016 Nov1;48(11):816-825. doi: 10.1152/physiolgenomics.00118.2015. PubMed PMID: 27637250.

Wu R, Zhai Y, Kuick R, Karnezis AN, Garcia P, Naseem A, Hu TC, Fearon ER, ChoKR. Impact of oviductal versus ovarian epithelial cell of origin on ovarianendometrioid carcinoma phenotype in the mouse. J Pathol. 2016 Nov;240(3):341-351.doi: 10.1002/path.4783. PubMed PMID: 27538791; PubMed Central PMCID: PMC5071155.

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Human Genetics | University of Michigan, Ann Arbor

Human[1] Temporal range: 0.1950Ma Middle Pleistocene Recent An adult human male (left) and female (right) in Northern Thailand. Scientific classification Kingdom: Animalia Phylum: Chordata Clade: Synapsida Class: Mammalia Order: Primates Suborder: Haplorhini Family: Hominidae Tribe: Hominini Genus: Homo Species: H.sapiens Binomial name Homo sapiens Linnaeus, 1758 Subspecies

Homo sapiens idaltu White et al., 2003 Homo sapiens sapiens

Modern humans (Homo sapiens, primarily ssp. Homo sapiens sapiens) are the only extant members of Hominina clade (or human clade), a branch of the taxonomical tribe Hominini belonging to the family of great apes. They are characterized by erect posture and bipedal locomotion; manual dexterity and increased tool use, compared to other animals; and a general trend toward larger, more complex brains and societies.[3][4]

Early homininsparticularly the australopithecines, whose brains and anatomy are in many ways more similar to ancestral non-human apesare less often referred to as "human" than hominins of the genus Homo.[5] Several of these hominins used fire, occupied much of Eurasia, and gave rise to anatomically modern Homo sapiens in Africa about 200,000 years ago.[6][7] They began to exhibit evidence of behavioral modernity around 50,000 years ago. In several waves of migration, anatomically modern humans ventured out of Africa and populated most of the world.[8]

The spread of humans and their large and increasing population has had a profound impact on large areas of the environment and millions of native species worldwide. Advantages that explain this evolutionary success include a relatively larger brain with a particularly well-developed neocortex, prefrontal cortex and temporal lobes, which enable high levels of abstract reasoning, language, problem solving, sociality, and culture through social learning. Humans use tools to a much higher degree than any other animal, are the only extant species known to build fires and cook their food, and are the only extant species to clothe themselves and create and use numerous other technologies and arts.

Humans are uniquely adept at utilizing systems of symbolic communication (such as language and art) for self-expression and the exchange of ideas, and for organizing themselves into purposeful groups. Humans create complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established an extremely wide variety of values,[9]social norms, and rituals, which together form the basis of human society. Curiosity and the human desire to understand and influence the environment and to explain and manipulate phenomena (or events) has provided the foundation for developing science, philosophy, mythology, religion, anthropology, and numerous other fields of knowledge.

Though most of human existence has been sustained by hunting and gathering in band societies,[10] increasing numbers of human societies began to practice sedentary agriculture approximately some 10,000 years ago,[11] domesticating plants and animals, thus allowing for the growth of civilization. These human societies subsequently expanded in size, establishing various forms of government, religion, and culture around the world, unifying people within regions to form states and empires. The rapid advancement of scientific and medical understanding in the 19th and 20th centuries led to the development of fuel-driven technologies and increased lifespans, causing the human population to rise exponentially. By February 2016, the global human population had exceeded 7.3 billion.[12]

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In common usage, the word "human" generally refers to the only extant species of the genus Homoanatomically and behaviorally modern Homo sapiens.

In scientific terms, the meanings of "hominid" and "hominin" have changed during the recent decades with advances in the discovery and study of the fossil ancestors of modern humans. The previously clear boundary between humans and apes has blurred, resulting in now acknowledging the hominids as encompassing multiple species, and Homo and close relatives since the split from chimpanzees as the only hominins. There is also a distinction between anatomically modern humans and Archaic Homo sapiens, the earliest fossil members of the species.

The English adjective human is a Middle English loanword from Old French humain, ultimately from Latin hmnus, the adjective form of hom "man." The word's use as a noun (with a plural: humans) dates to the 16th century.[13] The native English term man can refer to the species generally (a synonym for humanity), and could formerly refer to specific individuals of either sex, though this latter use is now obsolete.[14]

The species binomial Homo sapiens was coined by Carl Linnaeus in his 18th century work Systema Naturae.[15] The generic name Homo is a learned 18th century derivation from Latin hom "man," ultimately "earthly being" (Old Latin hem a cognate to Old English guma "man," from PIE demon-, meaning "earth" or "ground").[16] The species-name sapiens means "wise" or "sapient." Note that the Latin word homo refers to humans of either gender, and that sapiens is the singular form (while there is no such word as sapien).[17]

The genus Homo evolved and diverged from other hominins in Africa, after the human clade split from the chimpanzee lineage of the hominids (great apes) branch of the primates. Modern humans, defined as the species Homo sapiens or specifically to the single extant subspecies Homo sapiens sapiens, proceeded to colonize all the continents and larger islands, arriving in Eurasia 125,00060,000 years ago,[18][19]Australia around 40,000 years ago, the Americas around 15,000 years ago, and remote islands such as Hawaii, Easter Island, Madagascar, and New Zealand between the years 300 and 1280.[20][21]

The closest living relatives of humans are chimpanzees (genus Pan) and gorillas (genus Gorilla).[22] With the sequencing of both the human and chimpanzee genome, current estimates of similarity between human and chimpanzee DNA sequences range between 95% and 99%.[22][23][24] By using the technique called a molecular clock which estimates the time required for the number of divergent mutations to accumulate between two lineages, the approximate date for the split between lineages can be calculated. The gibbons (Hylobatidae) and orangutans (genus Pongo) were the first groups to split from the line leading to the humans, then gorillas (genus Gorilla) followed by the chimpanzees (genus Pan). The splitting date between human and chimpanzee lineages is placed around 48 million years ago during the late Miocene epoch.[25][26] During this split, chromosome 2 was formed from two other chromosomes, leaving humans with only 23 pairs of chromosomes, compared to 24 for the other apes.[27][28]

There is little fossil evidence for the divergence of the gorilla, chimpanzee and hominin lineages.[29][30] The earliest fossils that have been proposed as members of the hominin lineage are Sahelanthropus tchadensis dating from 7 million years ago, Orrorin tugenensis dating from 5.7 million years ago, and Ardipithecus kadabba dating to 5.6 million years ago. Each of these species has been argued to be a bipedal ancestor of later hominins, but all such claims are contested. It is also possible that any one of the three is an ancestor of another branch of African apes, or is an ancestor shared between hominins and other African Hominoidea (apes). The question of the relation between these early fossil species and the hominin lineage is still to be resolved. From these early species the australopithecines arose around 4 million years ago diverged into robust (also called Paranthropus) and gracile branches,[31] possibly one of which (such as A. garhi, dating to 2.5 million years ago) is a direct ancestor of the genus Homo.[32]

The earliest members of the genus Homo are Homo habilis which evolved around 2.8 million years ago.[33]Homo habilis has been considered the first species for which there is clear evidence of the use of stone tools. More recently, however, in 2015, stone tools, perhaps predating Homo habilis, have been discovered in northwestern Kenya that have been dated to 3.3 million years old.[34] Nonetheless, the brains of Homo habilis were about the same size as that of a chimpanzee, and their main adaptation was bipedalism as an adaptation to terrestrial living. During the next million years a process of encephalization began, and with the arrival of Homo erectus in the fossil record, cranial capacity had doubled. Homo erectus were the first of the hominina to leave Africa, and these species spread through Africa, Asia, and Europe between 1.3to1.8 million years ago. One population of H. erectus, also sometimes classified as a separate species Homo ergaster, stayed in Africa and evolved into Homo sapiens. It is believed that these species were the first to use fire and complex tools. The earliest transitional fossils between H. ergaster/erectus and archaic humans are from Africa such as Homo rhodesiensis, but seemingly transitional forms are also found at Dmanisi, Georgia. These descendants of African H. erectus spread through Eurasia from ca. 500,000 years ago evolving into H. antecessor, H. heidelbergensis and H. neanderthalensis. The earliest fossils of anatomically modern humans are from the Middle Paleolithic, about 200,000 years ago such as the Omo remains of Ethiopia and the fossils of Herto sometimes classified as Homo sapiens idaltu.[35] Later fossils of archaic Homo sapiens from Skhul in Israel and Southern Europe begin around 90,000 years ago.[36]

Human evolution is characterized by a number of morphological, developmental, physiological, and behavioral changes that have taken place since the split between the last common ancestor of humans and chimpanzees. The most significant of these adaptations are 1. bipedalism, 2. increased brain size, 3. lengthened ontogeny (gestation and infancy), 4. decreased sexual dimorphism (neoteny). The relationship between all these changes is the subject of ongoing debate.[37] Other significant morphological changes included the evolution of a power and precision grip, a change first occurring in H. erectus.[38]

Bipedalism is the basic adaption of the hominin line, and it is considered the main cause behind a suite of skeletal changes shared by all bipedal hominins. The earliest bipedal hominin is considered to be either Sahelanthropus[39] or Orrorin, with Ardipithecus, a full bipedal,[40] coming somewhat later.[citation needed] The knuckle walkers, the gorilla and chimpanzee, diverged around the same time, and either Sahelanthropus or Orrorin may be humans' last shared ancestor with those animals.[citation needed] The early bipedals eventually evolved into the australopithecines and later the genus Homo.[citation needed] There are several theories of the adaptational value of bipedalism. It is possible that bipedalism was favored because it freed up the hands for reaching and carrying food, because it saved energy during locomotion, because it enabled long distance running and hunting, or as a strategy for avoiding hyperthermia by reducing the surface exposed to direct sun.[citation needed]

The human species developed a much larger brain than that of other primates typically 1,330 cm3 in modern humans, over twice the size of that of a chimpanzee or gorilla.[41] The pattern of encephalization started with Homo habilis which at approximately 600cm3 had a brain slightly larger than chimpanzees, and continued with Homo erectus (8001100cm3), and reached a maximum in Neanderthals with an average size of 12001900cm3, larger even than Homo sapiens (but less encephalized).[42] The pattern of human postnatal brain growth differs from that of other apes (heterochrony), and allows for extended periods of social learning and language acquisition in juvenile humans. However, the differences between the structure of human brains and those of other apes may be even more significant than differences in size.[43][44][45][46] The increase in volume over time has affected different areas within the brain unequally the temporal lobes, which contain centers for language processing have increased disproportionately, as has the prefrontal cortex which has been related to complex decision making and moderating social behavior.[41] Encephalization has been tied to an increasing emphasis on meat in the diet,[47][48] or with the development of cooking,[49] and it has been proposed [50] that intelligence increased as a response to an increased necessity for solving social problems as human society became more complex.

The reduced degree of sexual dimorphism is primarily visible in the reduction of the male canine tooth relative to other ape species (except gibbons). Another important physiological change related to sexuality in humans was the evolution of hidden estrus. Humans are the only ape in which the female is fertile year round, and in which no special signals of fertility are produced by the body (such as genital swelling during estrus). Nonetheless humans retain a degree of sexual dimorphism in the distribution of body hair and subcutaneous fat, and in the overall size, males being around 25% larger than females. These changes taken together have been interpreted as a result of an increased emphasis on pair bonding as a possible solution to the requirement for increased parental investment due to the prolonged infancy of offspring.[citation needed]

By the beginning of the Upper Paleolithic period (50,000 BP), full behavioral modernity, including language, music and other cultural universals had developed.[51][52] As modern humans spread out from Africa they encountered other hominids such as Homo neanderthalensis and the so-called Denisovans. The nature of interaction between early humans and these sister species has been a long-standing source of controversy, the question being whether humans replaced these earlier species or whether they were in fact similar enough to interbreed, in which case these earlier populations may have contributed genetic material to modern humans.[53] Recent studies of the human and Neanderthal genomes suggest gene flow between archaic Homo sapiens and Neanderthals and Denisovans.[54][55][56] In March 2016, studies were published that suggest that modern humans bred with hominins, including Denisovans and Neanderthals, on multiple occasions.[57]

This dispersal out of Africa is estimated to have begun about 70,000 years BP from Northeast Africa. Current evidence suggests that there was only one such dispersal and that it only involved a few hundred individuals. The vast majority of humans stayed in Africa and adapted to a diverse array of environments.[58] Modern humans subsequently spread globally, replacing earlier hominins (either through competition or hybridization). They inhabited Eurasia and Oceania by 40,000 years BP, and the Americas at least 14,500 years BP.[59][60]

Until about 10,000 years ago, humans lived as hunter-gatherers. They gradually gained domination over much of the natural environment. They generally lived in small nomadic groups known as band societies, often in caves. The advent of agriculture prompted the Neolithic Revolution, when access to food surplus led to the formation of permanent human settlements, the domestication of animals and the use of metal tools for the first time in history. Agriculture encouraged trade and cooperation, and led to complex society.[citation needed]

The early civilizations of Mesopotamia, Egypt, India, China, Maya, Greece and Rome were some of the cradles of civilization.[61][62][63] The Late Middle Ages and the Early Modern Period saw the rise of revolutionary ideas and technologies. Over the next 500 years, exploration and European colonialism brought great parts of the world under European control, leading to later struggles for independence. The concept of the modern world as distinct from an ancient world is based on a rapid change progress in a brief period of time in many areas.[citation needed] Advances in all areas of human activity prompted new theories such as evolution and psychoanalysis, which changed humanity's views of itself.[citation needed] The Scientific Revolution, Technological Revolution and the Industrial Revolution up until the 19th century resulted in independent discoveries such as imaging technology, major innovations in transport, such as the airplane and automobile; energy development, such as coal and electricity.[64] This correlates with population growth (especially in America)[65] and higher life expectancy, the World population rapidly increased numerous times in the 19th and 20th centuries as nearly 10% of the 100 billion people lived in the past century.[66]

With the advent of the Information Age at the end of the 20th century, modern humans live in a world that has become increasingly globalized and interconnected. As of 2010, almost 2billion humans are able to communicate with each other via the Internet,[67] and 3.3 billion by mobile phone subscriptions.[68] Although interconnection between humans has encouraged the growth of science, art, discussion, and technology, it has also led to culture clashes and the development and use of weapons of mass destruction.[citation needed] Human civilization has led to environmental destruction and pollution significantly contributing to the ongoing mass extinction of other forms of life called the Holocene extinction event,[69] which may be further accelerated by global warming in the future.[70]

Early human settlements were dependent on proximity to water and, depending on the lifestyle, other natural resources used for subsistence, such as populations of animal prey for hunting and arable land for growing crops and grazing livestock. But humans have a great capacity for altering their habitats by means of technology, through irrigation, urban planning, construction, transport, manufacturing goods, deforestation and desertification. Deliberate habitat alteration is often done with the goals of increasing material wealth, increasing thermal comfort, improving the amount of food available, improving aesthetics, or improving ease of access to resources or other human settlements. With the advent of large-scale trade and transport infrastructure, proximity to these resources has become unnecessary, and in many places, these factors are no longer a driving force behind the growth and decline of a population. Nonetheless, the manner in which a habitat is altered is often a major determinant in population change.[citation needed]

Technology has allowed humans to colonize all of the continents and adapt to virtually all climates. Within the last century, humans have explored Antarctica, the ocean depths, and outer space, although large-scale colonization of these environments is not yet feasible. With a population of over seven billion, humans are among the most numerous of the large mammals. Most humans (61%) live in Asia. The remainder live in the Americas (14%), Africa (14%), Europe (11%), and Oceania (0.5%).[71]

Human habitation within closed ecological systems in hostile environments, such as Antarctica and outer space, is expensive, typically limited in duration, and restricted to scientific, military, or industrial expeditions. Life in space has been very sporadic, with no more than thirteen humans in space at any given time.[72] Between 1969 and 1972, two humans at a time spent brief intervals on the Moon. As of January 2017, no other celestial body has been visited by humans, although there has been a continuous human presence in space since the launch of the initial crew to inhabit the International Space Station on October 31, 2000.[73] However, other celestial bodies have been visited by human-made objects.[74][75][76]

Since 1800, the human population has increased from one billion[77] to over seven billion,[78] In 2004, some 2.5 billion out of 6.3 billion people (39.7%) lived in urban areas. In February 2008, the U.N. estimated that half the world's population would live in urban areas by the end of the year.[79] Problems for humans living in cities include various forms of pollution and crime,[80] especially in inner city and suburban slums. Both overall population numbers and the proportion residing in cities are expected to increase significantly in the coming decades.[81]

Humans have had a dramatic effect on the environment. Humans are apex predators, being rarely preyed upon by other species.[82] Currently, through land development, combustion of fossil fuels, and pollution, humans are thought to be the main contributor to global climate change.[83] If this continues at its current rate it is predicted that climate change will wipe out half of all plant and animal species over the next century.[84][85]

Most aspects of human physiology are closely homologous to corresponding aspects of animal physiology. The human body consists of the legs, the torso, the arms, the neck, and the head. An adult human body consists of about 100 trillion (1014) cells. The most commonly defined body systems in humans are the nervous, the cardiovascular, the circulatory, the digestive, the endocrine, the immune, the integumentary, the lymphatic, the muscoskeletal, the reproductive, the respiratory, and the urinary system.[86][87]

Humans, like most of the other apes, lack external tails, have several blood type systems, have opposable thumbs, and are sexually dimorphic. The comparatively minor anatomical differences between humans and chimpanzees are a result of human bipedalism. One difference is that humans have a far faster and more accurate throw than other animals. Humans are also among the best long-distance runners in the animal kingdom, but slower over short distances.[88][89] Humans' thinner body hair and more productive sweat glands help avoid heat exhaustion while running for long distances.[90]

As a consequence of bipedalism, human females have narrower birth canals. The construction of the human pelvis differs from other primates, as do the toes. A trade-off for these advantages of the modern human pelvis is that childbirth is more difficult and dangerous than in most mammals, especially given the larger head size of human babies compared to other primates. This means that human babies must turn around as they pass through the birth canal, which other primates do not do, and it makes humans the only species where females usually require help from their conspecifics (other members of their own species) to reduce the risks of birthing. As a partial evolutionary solution, human fetuses are born less developed and more vulnerable. Chimpanzee babies are cognitively more developed than human babies until the age of six months, when the rapid development of human brains surpasses chimpanzees. Another difference between women and chimpanzee females is that women go through the menopause and become unfertile decades before the end of their lives. All species of non-human apes are capable of giving birth until death. Menopause probably developed as it has provided an evolutionary advantage (more caring time) to young relatives.[89]

Apart from bipedalism, humans differ from chimpanzees mostly in smelling, hearing, digesting proteins, brain size, and the ability of language. Humans' brains are about three times bigger than in chimpanzees. More importantly, the brain to body ratio is much higher in humans than in chimpanzees, and humans have a significantly more developed cerebral cortex, with a larger number of neurons. The mental abilities of humans are remarkable compared to other apes. Humans' ability of speech is unique among primates. Humans are able to create new and complex ideas, and to develop technology, which is unprecedented among other organisms on Earth.[89]

It is estimated that the worldwide average height for an adult human male is about 172cm (5ft 712in),[citation needed] while the worldwide average height for adult human females is about 158cm (5ft 2in).[citation needed] Shrinkage of stature may begin in middle age in some individuals, but tends to be typical in the extremely aged.[91] Through history human populations have universally become taller, probably as a consequence of better nutrition, healthcare, and living conditions.[92] The average mass of an adult human is 5464kg (120140lb) for females and 7683kg (168183lb) for males.[93] Like many other conditions, body weight and body type is influenced by both genetic susceptibility and environment and varies greatly among individuals. (see obesity)[94][95]

Although humans appear hairless compared to other primates, with notable hair growth occurring chiefly on the top of the head, underarms and pubic area, the average human has more hair follicles on his or her body than the average chimpanzee. The main distinction is that human hairs are shorter, finer, and less heavily pigmented than the average chimpanzee's, thus making them harder to see.[96] Humans have about 2 million sweat glands spread over their entire bodies, many more than chimpanzees, whose sweat glands are scarce and are mainly located on the palm of the hand and on the soles of the feet.[97]

The dental formula of humans is: 2.1.2.32.1.2.3. Humans have proportionately shorter palates and much smaller teeth than other primates. They are the only primates to have short, relatively flush canine teeth. Humans have characteristically crowded teeth, with gaps from lost teeth usually closing up quickly in young individuals. Humans are gradually losing their wisdom teeth, with some individuals having them congenitally absent.[98]

Like all mammals, humans are a diploid eukaryotic species. Each somatic cell has two sets of 23 chromosomes, each set received from one parent; gametes have only one set of chromosomes, which is a mixture of the two parental sets. Among the 23 pairs of chromosomes there are 22 pairs of autosomes and one pair of sex chromosomes. Like other mammals, humans have an XY sex-determination system, so that females have the sex chromosomes XX and males have XY.[99]

One human genome was sequenced in full in 2003, and currently efforts are being made to achieve a sample of the genetic diversity of the species (see International HapMap Project). By present estimates, humans have approximately 22,000 genes.[100] The variation in human DNA is very small compared to other species, possibly suggesting a population bottleneck during the Late Pleistocene (around 100,000 years ago), in which the human population was reduced to a small number of breeding pairs.[101][102]Nucleotide diversity is based on single mutations called single nucleotide polymorphisms (SNPs). The nucleotide diversity between humans is about 0.1%, i.e. 1 difference per 1,000 base pairs.[103][104] A difference of 1 in 1,000 nucleotides between two humans chosen at random amounts to about 3 million nucleotide differences, since the human genome has about 3 billion nucleotides. Most of these single nucleotide polymorphisms (SNPs) are neutral but some (about 3 to 5%) are functional and influence phenotypic differences between humans through alleles.[citation needed]

By comparing the parts of the genome that are not under natural selection and which therefore accumulate mutations at a fairly steady rate, it is possible to reconstruct a genetic tree incorporating the entire human species since the last shared ancestor. Each time a certain mutation (SNP) appears in an individual and is passed on to his or her descendants, a haplogroup is formed including all of the descendants of the individual who will also carry that mutation. By comparing mitochondrial DNA, which is inherited only from the mother, geneticists have concluded that the last female common ancestor whose genetic marker is found in all modern humans, the so-called mitochondrial Eve, must have lived around 90,000 to 200,000 years ago.[105][106][107]

Human accelerated regions, first described in August 2006,[108][109] are a set of 49 segments of the human genome that are conserved throughout vertebrate evolution but are strikingly different in humans. They are named according to their degree of difference between humans and their nearest animal relative (chimpanzees) (HAR1 showing the largest degree of human-chimpanzee differences). Found by scanning through genomic databases of multiple species, some of these highly mutated areas may contribute to human-specific traits.[citation needed]

The forces of natural selection have continued to operate on human populations, with evidence that certain regions of the genome display directional selection in the past 15,000 years.[110]

As with other mammals, human reproduction takes place as internal fertilization by sexual intercourse. During this process, the male inserts his erect penis into the female's vagina and ejaculates semen, which contains sperm. The sperm travels through the vagina and cervix into the uterus or Fallopian tubes for fertilization of the ovum. Upon fertilization and implantation, gestation then occurs within the female's uterus.

The zygote divides inside the female's uterus to become an embryo, which over a period of 38 weeks (9 months) of gestation becomes a fetus. After this span of time, the fully grown fetus is birthed from the woman's body and breathes independently as an infant for the first time. At this point, most modern cultures recognize the baby as a person entitled to the full protection of the law, though some jurisdictions extend various levels of personhood earlier to human fetuses while they remain in the uterus.

Compared with other species, human childbirth is dangerous. Painful labors lasting 24 hours or more are not uncommon and sometimes lead to the death of the mother, the child or both.[111] This is because of both the relatively large fetal head circumference and the mother's relatively narrow pelvis.[112][113] The chances of a successful labor increased significantly during the 20th century in wealthier countries with the advent of new medical technologies. In contrast, pregnancy and natural childbirth remain hazardous ordeals in developing regions of the world, with maternal death rates approximately 100 times greater than in developed countries.[114]

In developed countries, infants are typically 34kg (69pounds) in weight and 5060cm (2024inches) in height at birth.[115][not in citation given] However, low birth weight is common in developing countries, and contributes to the high levels of infant mortality in these regions.[116] Helpless at birth, humans continue to grow for some years, typically reaching sexual maturity at 12 to 15years of age. Females continue to develop physically until around the age of 18, whereas male development continues until around age 21. The human life span can be split into a number of stages: infancy, childhood, adolescence, young adulthood, adulthood and old age. The lengths of these stages, however, have varied across cultures and time periods. Compared to other primates, humans experience an unusually rapid growth spurt during adolescence, where the body grows 25% in size. Chimpanzees, for example, grow only 14%, with no pronounced spurt.[117] The presence of the growth spurt is probably necessary to keep children physically small until they are psychologically mature. Humans are one of the few species in which females undergo menopause. It has been proposed that menopause increases a woman's overall reproductive success by allowing her to invest more time and resources in her existing offspring, and in turn their children (the grandmother hypothesis), rather than by continuing to bear children into old age.[118][119]

For various reasons, including biological/genetic causes,[120] women live on average about four years longer than menas of 2013 the global average life expectancy at birth of a girl is estimated at 70.2 years compared to 66.1 for a boy.[121] There are significant geographical variations in human life expectancy, mostly correlated with economic developmentfor example life expectancy at birth in Hong Kong is 84.8years for girls and 78.9 for boys, while in Swaziland, primarily because of AIDS, it is 31.3years for both sexes.[122] The developed world is generally aging, with the median age around 40years. In the developing world the median age is between 15 and 20years. While one in five Europeans is 60years of age or older, only one in twenty Africans is 60years of age or older.[123] The number of centenarians (humans of age 100years or older) in the world was estimated by the United Nations at 210,000 in 2002.[124] At least one person, Jeanne Calment, is known to have reached the age of 122years;[125] higher ages have been claimed but they are not well substantiated.

Humans are omnivorous, capable of consuming a wide variety of plant and animal material.[126][127] Varying with available food sources in regions of habitation, and also varying with cultural and religious norms, human groups have adopted a range of diets, from purely vegetarian to primarily carnivorous. In some cases, dietary restrictions in humans can lead to deficiency diseases; however, stable human groups have adapted to many dietary patterns through both genetic specialization and cultural conventions to use nutritionally balanced food sources.[128] The human diet is prominently reflected in human culture, and has led to the development of food science.

Until the development of agriculture approximately 10,000 years ago, Homo sapiens employed a hunter-gatherer method as their sole means of food collection. This involved combining stationary food sources (such as fruits, grains, tubers, and mushrooms, insect larvae and aquatic mollusks) with wild game, which must be hunted and killed in order to be consumed.[129] It has been proposed that humans have used fire to prepare and cook food since the time of Homo erectus.[130] Around ten thousand years ago, humans developed agriculture,[131] which substantially altered their diet. This change in diet may also have altered human biology; with the spread of dairy farming providing a new and rich source of food, leading to the evolution of the ability to digest lactose in some adults.[132][133] Agriculture led to increased populations, the development of cities, and because of increased population density, the wider spread of infectious diseases. The types of food consumed, and the way in which they are prepared, have varied widely by time, location, and culture.

In general, humans can survive for two to eight weeks without food, depending on stored body fat. Survival without water is usually limited to three or four days. About 36 million humans die every year from causes directly or indirectly related to starvation.[134] Childhood malnutrition is also common and contributes to the global burden of disease.[135] However global food distribution is not even, and obesity among some human populations has increased rapidly, leading to health complications and increased mortality in some developed, and a few developing countries. Worldwide over one billion people are obese,[136] while in the United States 35% of people are obese, leading to this being described as an "obesity epidemic."[137] Obesity is caused by consuming more calories than are expended, so excessive weight gain is usually caused by an energy-dense diet.[136]

No two humansnot even monozygotic twinsare genetically identical. Genes and environment influence human biological variation from visible characteristics to physiology to disease susceptibly to mental abilities. The exact influence of genes and environment on certain traits is not well understood.[138][139]

Most current genetic and archaeological evidence supports a recent single origin of modern humans in East Africa,[140] with first migrations placed at 60,000 years ago. Compared to the great apes, human gene sequenceseven among African populationsare remarkably homogeneous.[141] On average, genetic similarity between any two humans is 99.9%.[142][143] There is about 23 times more genetic diversity within the wild chimpanzee population, than in the entire human gene pool.[144][145][146]

The human body's ability to adapt to different environmental stresses is remarkable, allowing humans to acclimatize to a wide variety of temperatures, humidity, and altitudes. As a result, humans are a cosmopolitan species found in almost all regions of the world, including tropical rainforests, arid desert, extremely cold arctic regions, and heavily polluted cities. Most other species are confined to a few geographical areas by their limited adaptability.[147]

There is biological variation in the human specieswith traits such as blood type, cranial features, eye color, hair color and type, height and build, and skin color varying across the globe. Human body types vary substantially. The typical height of an adult human is between 1.4m and 1.9m (4ft 7 in and 6ft 3 in), although this varies significantly depending, among other things, on sex and ethnic origin.[148][149] Body size is partly determined by genes and is also significantly influenced by environmental factors such as diet, exercise, and sleep patterns, especially as an influence in childhood. Adult height for each sex in a particular ethnic group approximately follows a normal distribution. Those aspects of genetic variation that give clues to human evolutionary history, or are relevant to medical research, have received particular attention. For example, the genes that allow adult humans to digest lactose are present in high frequencies in populations that have long histories of cattle domestication, suggesting natural selection having favored that gene in populations that depend on cow milk. Some hereditary diseases such as sickle cell anemia are frequent in populations where malaria has been endemic throughout historyit is believed that the same gene gives increased resistance to malaria among those who are unaffected carriers of the gene. Similarly, populations that have for a long time inhabited specific climates, such as arctic or tropical regions or high altitudes, tend to have developed specific phenotypes that are beneficial for conserving energy in those environmentsshort stature and stocky build in cold regions, tall and lanky in hot regions, and with high lung capacities at high altitudes. Similarly, skin color varies clinally with darker skin around the equatorwhere the added protection from the sun's ultraviolet radiation is thought to give an evolutionary advantageand lighter skin tones closer to the poles.[150][151][152][153]

The hue of human skin and hair is determined by the presence of pigments called melanins. Human skin color can range from darkest brown to lightest peach, or even nearly white or colorless in cases of albinism.[146] Human hair ranges in color from white to red to blond to brown to black, which is most frequent.[154] Hair color depends on the amount of melanin (an effective sun blocking pigment) in the skin and hair, with hair melanin concentrations in hair fading with increased age, leading to grey or even white hair. Most researchers believe that skin darkening is an adaptation that evolved as protection against ultraviolet solar radiation, which also helps balancing folate, which is destroyed by ultraviolet radiation. Light skin pigmentation protects against depletion of vitamin D, which requires sunlight to make.[155] Skin pigmentation of contemporary humans is clinally distributed across the planet, and in general correlates with the level of ultraviolet radiation in a particular geographic area. Human skin also has a capacity to darken (tan) in response to exposure to ultraviolet radiation.[156][157][158]

Within the human species, the greatest degree of genetic variation exists between males and females. While the nucleotide genetic variation of individuals of the same sex across global populations is no greater than 0.1%, the genetic difference between males and females is between 1% and 2%. Although different in nature[clarification needed], this approaches the genetic differentiation between men and male chimpanzees or women and female chimpanzees. The genetic difference between sexes contributes to anatomical, hormonal, neural, and physiological differences between men and women, although the exact degree and nature of social and environmental influences on sexes are not completely understood. Males on average are 15% heavier and 15cm taller than females. There is a difference between body types, body organs and systems, hormonal levels, sensory systems, and muscle mass between sexes. On average, there is a difference of about 4050% in upper body strength and 2030% in lower body strength between men and women. Women generally have a higher body fat percentage than men. Women have lighter skin than men of the same population; this has been explained by a higher need for vitamin D (which is synthesized by sunlight) in females during pregnancy and lactation. As there are chromosomal differences between females and males, some X and Y chromosome related conditions and disorders only affect either men or women. Other conditional differences between males and females are not related to sex chromosomes. Even after allowing for body weight and volume, the male voice is usually an octave deeper than the female voice. Women have a longer life span in almost every population around the world.[160][161][162][163][164][165][166][167][168]

Males typically have larger tracheae and branching bronchi, with about 30% greater lung volume per unit body mass. They have larger hearts, 10% higher red blood cell count, and higher hemoglobin, hence greater oxygen-carrying capacity. They also have higher circulating clotting factors (vitamin K, prothrombin and platelets). These differences lead to faster healing of wounds and higher peripheral pain tolerance.[169] Females typically have more white blood cells (stored and circulating), more granulocytes and B and T lymphocytes. Additionally, they produce more antibodies at a faster rate than males. Hence they develop fewer infectious diseases and these continue for shorter periods.[169]Ethologists argue that females, interacting with other females and multiple offspring in social groups, have experienced such traits as a selective advantage.[170][171][172][173][174] According to Daly and Wilson, "The sexes differ more in human beings than in monogamous mammals, but much less than in extremely polygamous mammals."[175] But given that sexual dimorphism in the closest relatives of humans is much greater than among humans, the human clade must be considered to be characterized by decreasing sexual dimorphism, probably due to less competitive mating patterns. One proposed explanation is that human sexuality has developed more in common with its close relative the bonobo, which exhibits similar sexual dimorphism, is polygynandrous and uses recreational sex to reinforce social bonds and reduce aggression.[176]

Humans of the same sex are 99.9% genetically identical. There is extremely little variation between human geographical populations, and most of the variation that does occur is at the personal level within local areas, and not between populations.[146][177][178] Of the 0.1% of human genetic differentiation, 85% exists within any randomly chosen local population, be they Italians, Koreans, or Kurds. Two randomly chosen Koreans may be genetically as different as a Korean and an Italian. Any ethnic group contains 85% of the human genetic diversity of the world. Genetic data shows that no matter how population groups are defined, two people from the same population group are about as different from each other as two people from any two different population groups.[146][179][180][181]

Current genetic research has demonstrated that humans on the African continent are the most genetically diverse.[182] There is more human genetic diversity in Africa than anywhere else on Earth. The genetic structure of Africans was traced to 14 ancestral population clusters. Human genetic diversity decreases in native populations with migratory distance from Africa and this is thought to be the result of bottlenecks during human migration.[183][184] Humans have lived in Africa for the longest time, which has allowed accumulation of a higher diversity of genetic mutations in these populations. Only part of Africa's population migrated out of the continent, bringing just part of the original African genetic variety with them. African populations harbor genetic alleles that are not found in other places of the world. All the common alleles found in populations outside of Africa are found on the African continent.[146]

Geographical distribution of human variation is complex and constantly shifts through time which reflects complicated human evolutionary history. Most human biological variation is clinally distributed and blends gradually from one area to the next. Groups of people around the world have different frequencies of polymorphic genes. Furthermore, different traits are non-concordant and each have different clinal distribution. Adaptability varies both from person to person and from population to population. The most efficient adaptive responses are found in geographical populations where the environmental stimuli are the strongest (e.g. Tibetans are highly adapted to high altitudes). The clinal geographic genetic variation is further complicated by the migration and mixing between human populations which has been occurring since prehistoric times.[146][185][186][187][188][189]

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Human - Wikipedia

Genomics in Africa expands through the Human Heredity and Health in Africa Program

This month's The Genomics Landscape features stories about the expansion of the Human Heredity and Health in Africa (H3Africa) program, mouse knockouts and the "druggable" genome, the full ancestry data the Genome-Wide Association Study Catalog is releasing and all the latest news, funding opportunities and genomics research from NHGRI. There's also a reminder about the My Family Health Portrait tool, a place to share health information and learn about familial health conditions.

Through a simple blood test, physicians will soon be able to map the fetus' entire collection of genes (the whole genome) using fetal DNA that floats in the mother's blood. But a survey of 1,000 physicians says that ethical guidelines must be developed first. Researchers with the National Human Genome Research Institute published their findings in the December 6th issue of the journal Prenatal Diagnosis.

In 2010, the National Institutes of Health Common Fund and the United Kingdom's Wellcome Trust, in partnership with the African Society of Human Genetics, introduced the Human Heredity and Health in Africa (H3Africa) program to support African scientists conducting research on the genetic and environmental factors of disease. Five years after the program's first grants were awarded, researchers are building collaborative research networks and making discoveries about genetics and human health.

The Undiagnosed Diseases Network, an NIH Common Fund program aimed at solving challenging medical mysteries, isn't going anywhere anytime soon. The program has just approved funding through 2022. With this investment, the UDN will continue to accept participants with undiagnosed conditions and hopes to better understand how to become self-sustaining in the future. Funding announcements are planned for Summer 2017, pending available funds.

About half of a man's risk for developing prostate cancer arises from malfunctioning genetic variants that are inherited. Finding those variants is challenging, in part because each variant makes a modest contribution to disease risk. By examining the whole exomes - the 1-2 percent of the genome containing protein-coding genes - of 75 high-risk families, NHGRI researchers identified three new variants that increase a man's risk for developing prostate cancer. The findings were published Nov. 26 in Oncotarget.

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National Human Genome Research Institute

I want to go back a second to the end of last time because in the closing moments there, we, or at least I, got a little bit lost, and where the plusses and minuses were at a certain table.

And, I want to go back and make sure we've got that straight.

We were talking about a situation where we were trying to use genetics, and the phenotypes that might be observed in mutants to try to understand the biochemical pathway because we're beginning to try to unite the geneticist's point of view who looks only at mutants, and the biochemist's point of view who looks at pathways and proteins.

And, I had hypothesized that there was some biochemists who had thought up a possible pathway for the synthesis of arginine that involved some precursor, alpha, beta, gamma, where alpha is turned into beta; beta is turned into gamma; and gamma is used to turn into arginine. And, hypothetically, there would be some enzymes: enzyme A that converts alpha, enzyme B that converts beta, and enzyme C that converts gamma.

And, we were just thinking about, what would the phenotypes look like of different arginine auxotrophs that had blocks at different stages in the pathway. If I had an arginine auxotroph that had a block here because let's say a mutation in a gene affecting this enzyme, or at a block here at a mutation affecting, say, the gene that encodes enzyme C, how would I be able to tell very simply that they were in different genes? Last time, we found that we could tell they were in different genes by doing a cross between a mutant that had the first mutation, and a mutant that had the second mutation, and looking at the double heterozygote, right? And, if in the double heterozygote you had a wild type or a normal phenotype, then they had to be in different genes, OK? Remember that?

That was called a test of complementation.

That was how we were able to sort out which mutations were in the same gene, and which mutations were in different genes.

Now we can go a step further. When we've established that they're in different genes, we can try to begin to think, how do these genes relate to a biochemical pathway?

I wanted to begin to introduce, because it'll be relevant for today, this notion: so, suppose I had a mutation that affected enzyme A so that this enzymatic step couldn't be carried out.

Such a mutant, when I just try to grow it on minimal medium won't be able to grow. If I give it the substrate alpha, it doesn't do it any good because it hasn't got the enzyme to convert alpha. So, given alpha, it won't grow. But if I give it beta, what will happen? It can grow because I've bypassed the defect. What about if I give it gamma? Arginine?

Now, if instead the mutation were affecting enzymatic step here, then if I give it on minimal or medium but it can grow on gamma. What about this last line?

If I have a mutation and the last enzymatic step, minimal medium can't grow with alpha, can't grow with beta, can't even grow with gamma. But, it can grow with arginine because I've bypassed that step. So, I get a different phenotype, the inability to grow even on gamma, but I can grow on arginine. Now, here, if I put together those mutants and make a double mutant, a double homozygote, let's say, that's defective in both A and B, which will it look like? Will it be able to grow on minimal medium? Will it be able to grow on alpha?

Will it be able to grow on beta?

Will it be able to grow on gamma and arginine? What about if I have a double mutant in B and C, minus, minus, minus, minus, plus? So this looks the same as that. This looks the same as that.

And so, by looking at different mutant combinations, I can see that the phenotype of B here is what occurs in the double mutant. So, this phenotype is epistatic to this phenotype.

Epistatic means stands upon, OK? So, phenotypes, just like phenotypes can be recessive or dominant, you can also speak about them being epistatic. And epistatic means when you have both of two mutations together at the epistatic then one of them is epistatic to the other, perhaps.

It will, in fact, be the one that is present.

So, this is not so easy to do in many cases because if I take different kinds of mutation affecting wing development, and I put them together in the same fly, I may just get a very messed up wing, and it's very hard to tell that the double mutant has a phenotype that looks like either of the two single mutants.

But sometimes, if they fall very nicely in a pathway where this affects the first step, this affects the second step this affects the third step, this affects the fourth step, then the double mutant will look like one of those, OK? And, that way you can somehow order things in a biochemical pathway. Now, notice, this is all indirect, right? This is what geneticists did in the middle of the 20th century to try to figure out how to connect up mutants to biochemistry.

Actually, that's not true. It's what geneticists still do today because you might think that Well, we don't need to do this anymore, but in fact geneticists constantly are looking at mutants and making connections trying to say, what does this double combination look like? What does that double combination look like, and how does that tell us about the developmental pathway, which cell signals which cell? This turns out to be one of the most powerful ways to figure out what mutations do by saying the combination of two mutations looks like the same as one of them, allowing you to order the mutations in a pathway.

And, there's no general way to grind up a cell and order things in a pathway. Genetics is a very powerful tool for doing that.

Now, there are some ways to grind up cells and order things, but you need both of these techniques to believe stuff.

Anyway, I wanted to go over that, because it is an important concept, the concept of epistasis, the concept of relating mutations to steps and pathways, but what I mostly want to do today is go on now to talk about genetics not in organisms like yeast or fruit flies or even peas, but genetics in humans.

So, what's different about genetics in humans than genetics in yeast?

You can't choose who mates with whom. Well, you can.

I mean, in the days of arranged marriages maybe you couldn't, but you can choose who mates with whom, but only for yourself, right? What you can't do is arrange other crosses in the human population as an experimentalist. Now, your own choice of mating, unfortunately or fortunately perhaps produces too few progeny to be statistically significant. As a parent of three, I think about what it would take to raise a statistically significant number of offspring to draw any conclusions, and I don't think I could do that.

So, you're absolutely right. We can't arrange the matings that we want in the human population. So, that's the big difference.

So, can we do genetics anyway? How do we do genetics even though we can't arrange the matings the way we'd like to? Sorry?

Well, family trees. We have to take the matings as we find them in the human population. You can talk to somebody who might have an interesting phenotype, I don't know, attached earlobes, or very early heart disease, or some unusual color of eyes, and begin to collect a family history on that person.

It's a little bit of a dodgy thing because you might just be relying on that person's recollection. So, if you were really industrious about this, you'd go check out each of their family members and test for yourself whether they have the phenotype. People who do serious human genetic studies often go and do that. They have to go confirm, either by getting hospital records or interviewing the other members of the family, etc. So, this is not as easy as plating out lots of yeasts on a Petri plate.

And then you get pedigrees. And the pedigrees look like this.

Here's a pedigree. Tell me what you make of it.

Now, symbols: squares are males, circles are females by convention, a colored in symbol means the phenotype that we're interested in studying at the moment. So, in any given problem, somebody will tell you, well, we're studying some interesting phenotype. You often have an index case or a proband, meaning the person who comes to clinical attention, and then you chase back in the pedigree and try to reconstruct.

So, suppose I saw a pedigree like this.

What conclusions could I draw? Sorry? Recessive, sex link trait; why sex link trait? So, let's see if we can get your model up here. You think that this represents sex-linked inheritance. So, what would the genotype be of this male here? Mutant: I'll use M to denote a mutant carried on the X chromosome, and a Y on the opposite chromosome.

What's the genotype of the female here?

So, it's plus over plus where I'll use plus to denote the gene carried on the normal X chromosome. OK, and then what do you think happened over here? So, mutant over plus, you mate to this male who is plus over plus. Why is that male plus over plus? Oh, right, good point.

It's not plus over plus. It's plus over Y. Why is that male plus over Y as opposed to mutant over Y?

He'd have the mutant phenotype. So, he doesn't have the mutant phenotype so he can infer he's plus over Y. OK, and then what happens here? Mutant over Y; this is plus over Y. How did this person get plus over Y? They just the plus for mom, and the daughters, Y from dad, and a plus from mom. That's cool. Now, what about the daughters there? They're plus over plus, or M over plus? Is one, one, and one the other? Well, in textbooks it's always plus over plus and M over plus, but in real life? We don't know, right? So, this could be plus over plus, or M over plus, we don't know, OK? Now, what about on this side of the pedigree here?

What's the genotype here? Plus over Y, OK.

Why not mutant over Y? Because if they got the mutant, it would have to come from the, OK, so here, plus over plus, and then here, everybody is normal because there's no mutant allele segregated.

Yes? Yeah, couldn't there just be recessive? I mean, it's a nice story about the sex link but couldn't it be recessive? So, walk me through it being recessive. M over plus, plus over plus. Wait, wait, wait, hang on. Could this be M over plus, and that person be affected?

It's got to be M over M, right so mutants over mutants but that's possible. Yeah, OK. So, what would this person be? Plus over plus, let's say, come over here. Now, what would this person be? M plus. It has to be M plus because, OK, and what about this person here? M plus, now what about the offspring? So, one of them is M over M, plus over plus, and two M pluses. Does it always work out like that?

[LAUGHTER] No, it doesn't always work out like that at all.

So, I'm just going to write plus over plus here just to say, tough, right? In real life, it doesn't always come out like that.

What about over here? It would have to be plus over plus.

Why not? It doesn't because it could be M over plus and have no effect at offspring by chance, right? But, you were going to say it's plus over plus because in the textbooks it's always plus over plus in pictures like this, right? And then, it all turns out to be pluses and mutants, and pluses and mutants, and all that, right? Well, which picture's right?

Sorry? You don't know. So, that's not good. There's supposed to be answers to these things. Could either be true? Which is more likely? The one on the left? Why? More statistically probable, how come? Because it is. It may not quite suffice as a fully complete scientific answer though.

Yes? Yep. Well, but I have somebody who is affected here. So, given that I've gotten affected person in the family -- yeah, so it is actually, you're right, statistically somewhat less likely that you would have two independent M's entering the same pedigree particularly if M is relatively rare.

If M is quite common, however, suppose M were something was a 20% frequency in the population, then it actually might be quite reasonable that this could happen. So, what would you really want to do to test this? Sorry? Well, if you found any females here maybe you'd be able to conclude that it was autosomal recessive because females never show a sex-linked trait. Is that true?

No, that's not true. Why not? You're right. So, you just have to be homozygous for it on the X. So, having a single female won't, I mean, she's not going to take that as evidence. Get an affected female and demonstrate that all of her male offspring show the trait. Cross her with, wait, wait.

This is a human pedigree guys [LAUGHTER]. Whew! There are issues involved here, right? You could introduce her to a normal guy, [LAUGHTER] but whether you can cross her to a normal guy is not actually allowed. So, you see, these are exactly the issues in making sense out of pedigrees like this.

So, what you have to do is you have to collect a lot of data, and the kinds of characteristics that you look for in a pedigree, but they are statistical characteristics, and notwithstanding -- So, this could be colorblindness or something, but notwithstanding the pictures in the textbook of colorblindness and all that, you really do have to take a look at a number of properties. What are some properties?

One you've already referred to which is there's a predominance in males if it's X-linked. Why is there a predominance in males? Well, there's a predominance in males because if I have an X over Y and I've got a mutation paired on this X chromosome, males only have to get it on one.

Females have to get it on both, and therefore it's statistically more likely that males will get it. So, for example, the frequency of colorblindness amongst males is what? Yeah, it's 8-10%, something like that. I think it's about 8% or so.

And, amongst females, well, if it's 8% to get one, what's the chance you're going to get two?

It's 8% times 8% is a little less than 1% right?

It's 0.64%, OK, in females. So, we'll just go 8% squared. So in males, 8% in females, less than one percent.

So, there is a predominance in males of these sex-linked traits. Other things: affected males do not transmit the trait to the kids, in particular do not transmit it to their sons, right, because they are always sending the Y chromosomes to their songs. Carrier females transmit to half of their sons, and affected females transmit to all of their sons. And, the trait appears to skip generations, although I don't like this terminology.

It skips generations. These are the kinds of properties that you have. So, hemophilia, a good example of this, if I have a child with hemophilia, male with hemophilia, would you be surprised if his uncle had hemophilia? Which uncle would it be, maternal or paternal?

The maternal uncle would have hemophilia most likely.

It's always possible it could be paternal. This is the problem with human genetics is you've got to get enough families so the pattern becomes overwhelmingly clear, OK, because otherwise, as you can see with small numbers, it's tough to be absolutely certain.

So, these are properties of X linked traits.

How about baldness? Is baldness, that's a sex-linked trait? How come? You don't see a lot of bald females.

Does that prove it's sex linked? Sorry? Guys are stressed more.

[LAUGHTER] Is there evidence that it has anything to do with stress?

Actually, it has to do with excess testosterone it turns out, that high levels of testosterone are correlated with male pattern baldness, but does the fact that males become bald indicate that this is a sex linked trait? No. Just because it's predominant in male, we have to check these other properties.

Is it the case that bald fathers tend to have bald sons?

Any evidence on this point? Common-sensical evidence from observation? It's pretty clear. It's very clearly not a sex-linked trait. It's a sex-limited trait, because in order to show this you need to be male because the high levels of testosterone are not found in females even if they have the genotype that might predispose them to become bald if they were male. So, it actually is not a sex-linked trait at all, and it's very clear that male pattern baldness does run in families more vertically. So, you've got to be careful about the difference between sex linked and sex limited, and sex linked you can really pick out from transmission and families.

OK, here's another one. New pedigree.

She married twice here. OK, what do we got?

Yep? She married again. She married twice. She didn't have any offspring the second time. But that happens, and you have to be able to draw it in the pedigree.

She's entitled, all right. OK, so she got married again, no offspring from this marriage. That's her legal symbol. You guys think that's funny. It's real, you know?

OK, that doesn't mean she's married to two people at the same time.

This is not a temporal picture. So, what do we got here? Yep?

Sorry, of this person? Well, I'm drawing them as an empty symbol here, indicating that we do not think they have the trait.

They're not carriers. How do you propose to find that out?

Look at the children. Well, the children are affected. They could be carriers. The data are what they are.

You've got to interpret it. Does this person have to be a carrier? What kind of trait do you think this is?

Dominant? Does this look like autosomal dominant to you?

Yep? Oh, not all the kids have the trait in the first generation, and if this was dominant, they'd all have it? What's a possible genotype for this person?

Mutant over plus. And, these kids could be mutant over plus.

This could be plus over plus, and this could be plus over plus, mutant over plus, plus over plus, mutant over plus, and plus over plus would be one possibility. On average, what fraction of the kids should get the trait? About half the kids, right? So, let's see what characteristics we have here. We see the trait in every generation.

On average, half the kids get the trait.

Half of the offspring of an affected individual are affected.

What else? Males and females? Roughly equal in males and females?

Sorry? One, two, three, four, five to two. So, it's a 5:2 ratio?

Oh, in the offspring it's a 2:1 ratio. So, this is like Mendel.

You see this number and you say, OK, 2:1. Isn't that trying to tell me something? Not with six offspring. That's the problem is with six offspring, 2:1 might be trying to tell you 1:1.

And it is. If I had a dominantly inherited trait where there's a 50/50 chance of each offspring getting the disease and it was autosomal, not sex linked, there would be very good odds of getting two males and one female because it happens: flip coins and it happens. So, you have to take that into account, and here you see what else we have. Roughly equal numbers of males and females, they transmit equally, and unaffecteds never transmit.

This would be the classic autosomal dominant trait.

Right, here this mutant would go mutant over plus, mutant over plus, plus over plus, mutant over plus, plus over plus, plus over plus, and you'd see here that three out of the five here, and one, two, three out of the six there: that's a little more than half but it's small numbers here, right? This is a classic autosomal dominant as in the textbooks. Yes? Turns out not to make too much of a difference. It turns out that there's lots of genome that's on either. And so, it is true that males are more susceptible to certain genetic diseases.

So, it'll be some excess, but it won't matter for this.

Now, in real life it doesn't always work so beautifully.

We'll take an example: colon cancer. There are particular autosomal dominant mutations here that cause a high risk of colon cancer.

People who have mutations in a certain gene, MLH-1, have about a 70% risk of getting colon cancer in their life.

But notice, it's not 100%. You might have incomplete penetrance.

Incompletely penetrance means not everybody who gets the genotype gets the phenotype. Not all people with the M over plus genotype show the phenotype. Once you do that, it messes up our picture colossally, because, tell me, how do we know that this person over here is not actually M over plus.

Maybe they're cryptic. They haven't shown the phenotype.

And maybe, it'll appear in the next generation. That'll screw up everything. It screws up our rule about not transmitting through unaffected, it screws up the rule about not being shown in every generation, and it will even screw up our 50/50 ratio because if half the offspring get M over plus, but only 70% of that half show the phenotype, then only 35% of the offspring will show the phenotype. Unfortunately, this is real life.

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Lecture 9: Human Genetics | Video Lectures | Introduction ...

Introduction[edit]

Genetics is the science of the way traits are passed from parent to offspring. For all forms of life, continuity of the species depends upon the genetic code being passed from parent to offspring. Evolution by natural selection is dependent on traits being heritable. Genetics is very important in human physiology because all attributes of the human body are affected by a persons genetic code. It can be as simple as eye color, height, or hair color. Or it can be as complex as how well your liver processes toxins, whether you will be prone to heart disease or breast cancer, and whether you will be color blind. Defects in the genetic code can be tragic. For example: Down Syndrome, Turner Syndrome, and Klinefelter's Syndrome are diseases caused by chromosomal abnormalities. Cystic fibrosis is caused by a single change in the genetic sequence.

Genetic inheritance begins at the time of conception. You inherited 23 chromosomes from your mother and 23 from your father. Together they form 22 pairs of autosomal chromosomes and a pair of sex chromosomes (either XX if you are female, or XY if you are male). Homologous chromosomes have the same genes in the same positions, but may have different alleles (varieties) of those genes. There can be many alleles of a gene within a population, but an individual within that population only has two copies, and can be homozygous (both copies the same) or heterozygous (the two copies are different) for any given gene.

Genetics is important to medicine. As more is understood about how genetics affects certain defects and diseases, cures and treatments can be more readily developed for these disorders. The sequence of the human genome (approximately 3 billion base pairs in a human haploid genome with an estimated 20,000-25,000 protein-coding genes) was completed in 2003, but we are far from understanding the functions and regulations of all the genes. In some ways medicine is moving from diagnosis based on symptoms towards diagnosis based on genetics, and we are moving into what many are calling the age of personalized medicine.

Deoxyribonucleic acid (DNA) is the macromolecule that stores the information necessary to build structual and functional cellular components. It also provides the basis for inheritance when DNA is passed from parent to offspring. The union of these concepts about DNA allows us to devise a working definition of a gene. A gene is a segment of DNA that codes for the synthesis of a protein and acts as a unit of inheritance that can be transmitted from generation to generation. The external appearance (phenotype) of an organism is determined to a large extent by the genes it inherits (genotype). Thus, one can begin to see how variation at the DNA level can cause variation at the level of the entire organism. These concepts form the basis of genetics and evolutionary theory.

rotating animation of a DNA molecule.

A gene is made up of short sections of DNA which are contained on a chromosome within the nucleus of a cell. Genes control the development and function of all organs and all working systems in the body. A gene has a certain influence on how the cell works; the same gene in many different cells determines a certain physical or biochemical feature of the whole body (e.g. eye color or reproductive functions). All human cells hold approximately 30,000 different genes. Even though each cell has identical copies of all of the same genes, different cells express or repress different genes. This is what accounts for the differences between, let's say, a liver cell and a brain cell . Genotype is the actual pair of genes that a person has for a trait of interest. For example, a woman could be a carrier for hemophilia by having one normal copy of the gene for a particular clotting protein and one defective copy. A Phenotype is the organisms physical appearance as it relates to a certain trait. In the case of the woman carrier, her phenotype is normal (because the normal copy of the gene is dominant to the defective copy). The phenotype can be for any measurable trait, such as eye color, finger length, height, physiological traits like the ability to pump calcium ions from mucosal cells, behavioral traits like smiles, and biochemical traits like blood types and cholesterol levels. Genotype cannot always be predicted by phenotype (we would not know the woman was a carrier of hemophilia just based on her appearance), but can be determined through pedigree charts or direct genetic testing. Even though genotype is a strong predictor of phenotype, environmental factors can also play a strong role in determining phenotype. Identical twins, for example, are genetic clones resulting from the early splitting of an embryo, but they can be quite different in personality, body mass, and even fingerprints.

Genetics (from the Greek genno = give birth) is the science of genes, heredity, and the variation of organisms. The word "genetics" was first suggested to describe the study of inheritance and the science of variation by prominent British scientist William Bateson in a personal letter to Adam Sedgwick, dated April 18, 1905. Bateson first used the term "genetics" publicly at the Third International Conference on Genetics (London, England) in 1906.

Heredity and variations form the basis of genetics. Humans apply knowledge of genetics in prehistory with the domestication and breeding of plants and animals. In modern research, genetics provide important tools for the investigation of the function of a particular gene, e.g., analysis of genetic interactions. Within organisms, genetic information is generally carried in chromosomes, where it is represented in the chemical structure of particular DNA molecules.

Genes encode the information necessary for synthesizing the amino-acid sequences in proteins, which in turn play a large role in determining the final phenotype, or physical appearance of the organism. In diploid organisms, a dominant allele on one chromosome will mask the expression of a recessive allele on the other. While most genes are dominant/recessive, others may be codominant or show different patterns of expression. The phrase "to code for" is often used to mean a gene contains the instructions about a particular protein, (as in the gene codes for the protein). The "one gene, one protein" concept is now known to be the simplistic. For example, a single gene may produce multiple products, depending on how its transcription is regulated. Genes code for the nucleotide sequence in mRNA and rRNA, required for protein synthesis.

Gregor Mendel researched principals of heredity in plants. He soon realized that these principals also apply to people and animals and are the same for all living animals.

Gregor Mendel experimented with common pea plants. Over generations of the pea plants, he noticed that certain traits can show up in offspring with out blending any of the parent's characteristics. This is a very important observation because at this point the theory was that inherited traits blend from one generation to another.

Pea plant reproduction is easily manipulated. They have both male and female parts and can easily be grown in large numbers. For this reason, pea plants can either self-pollinate or cross-pollinate with other pea plants.

In cross pollinating two true-breeding plants, for example one that came from a long line of yellow peas and the other that came from a long line of green peas, the first generation of offspring always came out with all yellow peas. The following generations had a ratio of 3:1 yellow to green. In this and in all of the other pea plant traits Mendel observed, one form was dominant over another so it masked the presence of the other allele. Even if the phenotype (presence) is covered up, the genotype (allele) can be passed on to other generations.

Time line of notable discoveries

1859 Charles Darwin publishes "The Origin of Species"

1865 Gregor Mendel's paper, Experiments on Plant Hybridization

1903 Chromosomes are discovered to be hereditary units

1906 The term "genetics" is first introduced publicly by the British biologist William Bateson at the Third International Conference on Genetics in London, England

1910 Thomas Hunt Morgan shows that genes reside on chromosomes, and discovered linked genes on chromosomes that do NOT follow Mendel's law of independent allele segregation

1913 Alfred Sturtevant makes the first genetic map of a chromosome

1913 Gene maps show chromosomes contain linear arranged genes

1918 Ronald Fisher publishes On the correlation between relatives on the supposition of Mendelian inheritance - the modern synthesis starts.

1927 Physical changes in genes are called mutations

1928 Fredrick Griffith discovers a hereditary molecule that is transmissible between bacteria

1931 Crossing over is the cause of recombination

1941 Edward Lawrie Tatum and George Wells Beadle show that genes code for proteins

1944 Oswald Theodore Avery, Colin McLeod and Maclyn McCarty isolate DNA as the genetic material (at that time called transforming principle)

1950 Erwin Chargaff shows that the four nucleotides are not present in nucleic acid in stable proportions, but that some general rules appear to hold. (e.g., the nucleotide bases Adenine-Thymine and Cytosine-guanine always remain in equal proportions)

1950 Barbra McClintock discovers transposons in maize

1952 The Hershey-Chase experiment proves the genetic information of phages (and all other organisms) to be DNA

1953 DNA structure is resolved to be a double helix by James D. Watson and Francis Crick, with help from Rosalind Franklin

1956 Jo Hin Tjio and Albert Levan established the correct chromosome number in humans to be 46

1958 The Meselson-Stahl experiment demonstrates that DNA is semi-conservatively replicated

1961 The genetic code is arranged in triplets

1964 Howard Temin showed using RNA viruses that Watson's central dogma is not always true

1970 Restriction enzymes were discovered in studies of a bacterium Haemophilus influenzae, enabling scientists to cut and paste DNA

1977 DNA is sequenced for the first time by Fred Sangr, Walter Gilbert, and Allan Maxam working independently. Sanger's lab complete the entire genome of sequence of Bacteriophage

1983 Kary Banks Mullis discovers the polymerase chain reaction (PCR) enabling the easy amplification of DNA

1985 Alec Jeffreys discovers genetic finger printing

1989 The first human gene is sequenced by Francis Collin and Lap-Chee Tsui. It encodes the CFTR protein. Defect in this gene causes Cystic Fibrosis

1995 The genome of Haemophilus influenza is the first genome of a free living organism to be sequenced.

1996 Saccharomyces cerevisiae is the first eukaryote genome sequence to be released.

1998 The first genome sequence for a multicellular eukaryote, C. elegans is released.

2001 First draft sequences of the human genome are released simultaneously by the Human Genome Project and Celera Genomic

2003 (14 April) Successful completion of Human Genome Project with 99% of the genome sequenced to a 99.99% accuracy

2006 Marcus Pembrey and Olov Bygren publish Sex-specifics, male line trans-generational responses in humans, a proof of epigenetics

Transcription is the process of making RNA. In response to an enzyme RNA polymerase breaks the hydrogen bonds of the gene. A gene is a segment of DNA which contains the information for making a protein. As it breaks the hydrogen bonds it begins to move down the gene. Next the RNA polymerase will line up the nucleotides so they are complementary. Some types of RNA will leave the nucleus and perform a specific function.

Translation is the synthesis of the protein on the ribosome as the mRNA moves across the ribosome. There are eleven basic steps to translation.

1. The mRNA base sequence determines the order of assembling of the amino acids to form specific proteins.

2. Transcription occurs in the nucleus, and once you have completed transcription the mRNA will leave the nuecleus, and go into the cytoplasm where the mRNA will bind to a free floating ribosome, where it will attach to a small ribosomal subunit.

3. Methionine-tRNA binds to the nucleotides AUG. AUG is known as the start codon and is found at the beginning of each mRNA.

4. The complex then binds to a large ribosomal subunit. Methionine-tRNA is bound to the P site of the ribosome.

5. Another tRNA containing a second amino acid (lysine) binds to the second amino acid. Binding to the second condon of mRNA (on the A-site of the ribosome).

6. Peptidyl transferase, forms a peptide3 bond between the two amino acids (methionine and lysine)

7. The first amino tRNA is released and mRNA is translocated one codon carrying the second tRNA (still carrying the two amino acids) to the P site.

8. Another tRNA with attached amino acid (glutamine) moves into the A site and binds to that codon.

9. It will now form a peptide bond with lysine and glutamine

10. Now the tRNA in the P site will be let go, and mRNA is translocated one codon, (the tRNA with three amino acids) to the P site.

11. This will continue going until it reaches the stop codon (UAG) on the mRNA. Then this codon will tell it to release the polypeptide chain.

These are some good sites to visit

Select A the video of the Inner Life of a Cell. If you want to hear the descriptions in this process go to B web site and select the Inner Life: view the animation.

Children inherit traits, disorders, and characteristics from their parents. Children tend to resemble their parents especially in physical appearance. However they may also have the same mannerisms, personality, and a lot of the time the same mental abilities or disabilities. Many negatives and positives tend to "run in the family". A lot of the time people will use the excuse "It runs in the family" for things that have alternative reasons, such as a whole family may be overweight, yes it may "run in the family" but it could also be because of all the hamburgers and extra mayo that they all eat. Or the fact that after they eat the hamburgers they all sit on the couch and don't move for the rest of the evening. Children may have the same habits (good or bad) as their parents, like biting their nails or enjoying reading books. These things aren't inherited they are happening because children imitate their parents, they want to be like mom or dad. Good examples are just as important as good genes.

A person's cells hold the exact genes that originated from the sperm and egg of his parents at the time of conception. The genes of a cell are formed into long strands of DNA. Most of the genes that control characteristic are in pairs, one gene from mom and one gene from dad. Everybody has 22 pairs of chromosomes (autosomes) and two more genes called sex-linked chromosomes. Females have two X (XX) chromosomes and males have an X and a Y (XY) chromosome. Inherited traits and disorders can be divided into three categories: unifactorial inheritance, sex-linked inheritance, and multifactor inheritance.

Traits such as blood type, eye color, hair color, and taste are each thought to be controlled by a single pair of genes. The Austrian monk Gregor Mendel was the first to discover this phenomenon, and it is now referred to as the laws of Mendelian inheritance. The genes deciding a single trait may have several forms (alleles). For example, the gene responsible for hair color has two main alleles: red and brown. The four possibilities are thus

Brown/red, which would result in brown hair, Red/red, resulting in red hair, Brown/brown, resulting in brown hair, or Red/brown, resulting in red hair.

The genetic codes for red and brown can be either dominant or recessive. In any case, the dominant gene overrides the recessive.

When two people create a child, they each supply their own set of genes. In simplistic cases, such as the red/brown hair, each parent supplies one "code", contributing to the child's hair color. For example, if dad has brown/red he has a 50% chance of passing brown hair to his child and a 50% of passing red hair. When combined with a mom who has brown/brown (who would supply 100% brown), the child has a 75% chance of having brown hair and a 25% chance of having red hair. Similar rules apply to different traits and characteristics, though they are usually far more complex.

Some traits are found to be determined by genes and environmental effects. Height for example seems to be controlled by multiple genes, some are "tall" genes and some are "short" genes. A child may inherit all the "tall" genes from both parents and will end up taller than both parents. Or the child my inherit all the "short" genes and be the shortest in the family. More often than not the child inherits both "tall" and "short" genes and ends up about the same height as the rest of the family. Good diet and exercise can help a person with "short" genes end up attaining an average height. Babies born with drug addiction or alcohol addiction are a sad example of environmental inheritance. When mom is doing drugs or drinking, everything that she takes the baby takes. These babies often have developmental problems and learning disabilities. A baby born with Fetal alcohol syndrome is usually abnormally short, has small eyes and a small jaw, may have heart defects, a cleft lip and palate, may suck poorly, sleep poorly, and be irritable. About one fifth of the babies born with fetal alcohol syndrome die within the first weeks of life, those that live are often mentally and physically handicapped.

Sex-linked inheritance is quite obvious, it determines your gender. Male gender is caused by the Y chromosome which is only found in males and is inherited from their fathers. The genes on the Y chromosomes direct the development of the male sex organs. The x chromosome is not as closely related to the female sex because it is contained in both males and females. Males have a single X and females have double XX. The X chromosome is to regulate regular development and it seems that the Y is added just for the male genitalia. When there is a default with the X chromosomes in males it is almost always persistent because there is not the extra X chromosome that females have to counteract the problem. Certain traits like colorblindness and hemophilia are on alleles carried on the X chromosome. For example if a woman is colorblind all of her sons will be colorblind. Whereas all of her daughters will be carriers for colorblindness.

Our knowledge of the mechanisms of genetic inheritance has grown a lot since Mendel's time. It is now understood, that if you inherit one allele, it can sometimes increase the chance of inheriting another and can affect when or how a trait is expressed in an individuals phenotype. There are levels of dominance and recessiveness with some traits. Mendel's simple rules of inheritance does not always apply in these exceptions.

Polygenic traits are traits determined by the combined effect of more than one pair of genes. Human stature is an example of this trait. The size of all body parts from head to foot combined determines height. The size of each individual body part are determined by numerous genes. Human skin, eyes, and hair are also polygenic genes because they are determined by more than one allele at a different location.

When there is incomplete dominance, blending can occur resulting in heterozygous individuals. An example of intermediate expression is the pitch of a human male voice. Homozygous men have the lowest and highest voice for this trait (AA and aa). The child killer Tay- Sachs is also characterized by incomplete dominance.

For some traits, two alleles can be co-dominant. Were both alleles are expressed in heterozygous individuals. An example of that would be a person with AB blood. These people have the characteristics of both A and B blood types when tested.

There are some traits that are controlled by far more alleles. For example, the human HLA system, which is responsible for accepting or rejecting foreign tissue in our bodies, can have as many as 30,000,000 different genotypes! The HLA system is what causes the rejection of organ transplants. The multiple allele series is very common, as geneticists learn more about genetics, they realize that it is more common than the simple two allele ones.

Modifying and regulator genes are the two classes of genes that may have an effect on how the other genes function. Modifying Genes alter how other genes are expressed in the phenotype. For example, a dominant cataracts gene may impair vision at various degrees, depending on the presence of a specific allele for a companion modifying gene. However, cataracts can also come from excessive exposure to ultraviolet rays and diabetes. Regulator Genes also known as homoerotic genes, can either initiate or block the expression of other genes. They also control a variety of chemicals in plants and animals. For example, Regulator genes control the time of production of certain proteins that will be new structural parts of our bodies. Regulator genes also work as a master switch starting the development of our body parts right after conception and are also responsible for the changes in our bodies as we get older. They control the aging processes and maturation.

Some genes are incomplete penetrate. Which means, unless some environmental factors are present, the effect does not occur. For example, you can inherit the gene for diabetes, but never get the disease, unless you were greatly stressed, extremely overweight, or didn't get enough sleep at night.

Some of the most common inherited diseases are hemochromatosis, cystic fibrosis, sickle cell anemia and hemophilia. They are all passed along from the parents and even if the parents don't show signs of the disease they may be carriers which mean that all of the children they have may be born with the disease. There is genetic testing that may be done prenatally to determine if the baby is conflicted with one of these diseases.

Even though most people have never heard of hemochromatosis it is the most common inherited disease. About 1 in 300 are born with hemochromatis and 1 in 9 are carriers. The main characteristic is the intake of too much iron into the inflicted body. Iron is crucial to the workings of hemoglobin but too much iron is just as bad as too little iron. With hemochromatosis deposits of iron form on almost every major organ especially the liver, heart and pancreas, which causes complete organ failure. Hemochromatosis patients usually absorb two or three times the iron that is needed for normal people. Hemochromatosis was first discovered in 1865 and most patients have Celtic ancestry dating back 60 or 70 generations.

The most common treatment for hemochromatosis is to induce anemia and maintain it until the iron storage is reduced. This is done by therapeutic phlebotomy. Phlebotomy is the removal of a unit of blood (about 500 mls.) This must be done one to two times a week and can take weeks, months, or years to complete. After this treatment some patients will never have to do it again and others will have to do it many times over the course of their life. Patients who undergo their recommended treatments usually go on to live a long and healthy life. Patients who decide against treatment increase their chances of problems such as organ failure -- or even death. Along with phlebotomy treatment, patients should stick to a low iron diet and should not cook with iron cookware.

Cystic fibrosis is a disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is the most common lung disease in children and young adults and may cause early death. The mucus builds up in the breathing passages of the lungs and in the pancreas. The build up of the mucus results in terrible lung infections and digestion problems. Cystic fibrosis may also cause problem with the sweat gland and a man's reproductive system. There are more than 1,000 mutations of the CF gene, symptoms vary from person to person. The most common symptoms are: No bowel movements for the first 24 to 48 hours of life, stools that are pale or clay colored, foul smelling or that float, infants that have salty-tasting skin, recurrent respiratory infections like pneumonia, coughing or wheezing, weight loss or low weight gain in childhood, diarrhea, delayed growth, and excessive fatigue. Most patients are diagnosed by their first birthday but less severe cases sometimes aren't caught until after 18 years of age. 40% of patients are over 18 years old and the average life span of CF patients is about 35 years old, which is a huge increase over the last 30 years. Patients usually die of lung complications.

In 2005 the U.S food and drug administration approved the first DNA based blood test to help detect CF. Other tests to help detect CF include: Sweat chloride test, which is the standard test for CF. High salt levels in the patients sweat is an indication of CF, Fecal fat test, upper GI and small bowel series, and measurements of pancreatic function. After a diagnosis has been made there are a number of treatments available, these include: Antibiotics for respiratory infections, pancreatic enzyme replacement, vitamin supplements (mostly A, D, E, and K), inhalers to open the airways, enzyme replacement therapy which makes it easier to cough up the mucus, pain relievers, and in very severe cases, lung transplants.

Sickle cell anemia is an inherited disease of the red blood cells which causes abnormally shaped red cells. A typical red blood cell has about 270 million hemoglobin molecules, which bind with oxygen. In a person with sickle cell disease, one amino acid is changed in the hemoglobin molecule, and the end result is misshapen red blood cells. In a patient with sickle cell disease the red blood cells change from the normal round shape to the shape of a sickle or "C" shaped. The abnormal shape causes the cells to get stuck in some blood vessels which causes blockage in the vessel. This causes pain and can destroy organs because of the lack of oxygen. Sickle cells live only 10 to 20 days and a normal cell lives about 120 days.

Red blood cells with sickle-cell mutations.

This rapid death of blood cells leads to chronic anemia. Complications can include severe pain, terrible infection, swelling of the feet and hands, stroke, damage to the eyes, and damaged body organs. These effects can vary from person to person depending on the type of sickle cell disease they have. Some patients are mostly healthy and others are in the hospital more than they are out. Thanks to diagnosis and treatment advancements, most children born with sickle cell grow up to have a normal and relatively healthy life. The form of sickle cell is determined by which genes they inherit from the parents. When a child inherits a sickle cell gene (hemoglobin gene) from each parent it is called hemoglobin SS disease ( which is the formal name for sickle cell). When a child inherits a sickle cell gene from one parent and a different abnormal gene from the other parent, it is a form of disease called hemoglobin SC disease or hemoglobin S-thalassemia. If a child inherits a normal gene from one parent and a sickle cell gene from the other, the child will not have sickle cell but will be a carrier and may pass it to their children. Sickle cell affects mostly African Americans and some Latino Americans. A person who is a carrier (has one copy of the gene) is resistant to malaria. This heterozygote advantage explains why the gene is more common in people in equatorial regions, or who are descendants of such people (such as African Americans).

Sickle cell is diagnosed at birth with a simple blood test. If the first blood test is positive then a second test is done just for confirmation. Because of the high risk of infections that occur with sickle cell, early diagnosis is very important. Other than a bone marrow transplant there is no known cure for sickle cell. Bone marrow transplants have a high risk of rejection and aren't an available option for every patient. The patient would need a bone marrow donor match with a low risk of rejection. Even without a cure, with the use of pain medications and antibiotic treatments, children with sickle cell can live a long and happy life. Blood transfusions are sometimes used to treat episodes of severe pain. For adults who have recurrent pain episodes (at least 3 yearly), a cancer drug, hydroxyurea (marketed as Droxia), has been approved to relieve symptoms. It appears to work by increasing the flexibility of sickle cells.

About two thirds of people who have Hemophilia have inherited it. For the other third, there is no known cause for possessing the disorder. There are two types of hemophilia, Type A and Type B. Both are caused by a low level or a complete absence of protein in the blood. Without this protein, blood is not able to clot.

Some of the symptoms of Hemophilia are bleeding in the joints, knees, and ankles. Stiffness without pain in the joints, stiffness with a lot of warmth,(most ability for movement is lost due to swelling) blood in the urine or stool, excessive bleeding after surgery or loosing a tooth, excessive bruising, abnormal menstrual bleeding, and nose bleeds that last for long periods of time.

Hemophiliacs blood does not coagulate like a normal persons. Coagulation controls bleeding, it changes blood from a liquid to a solid. Within seconds of a cut or scrape, platelets, calcium and other tissue factors start working together to form a clot. Over a short time the clot strengthens and then dissolves as the injury heals. Hemophiliacs are missing the clotting factor, or it isn't working correctly which causes them to bleed for a longer time. The most common myth is that a person with a bleeding disorder will bleed to death from a minor wound or that their blood flows faster than somebody without a bleeding disorder. Some of the risks hemophilia are: Scarring of the joints or joint disease, vision loss from bleeding of the eyes, chronic anemia from blood loss, a neurological or psychiatric problem, death which may occur from large amounts of blood loss or bleeding in the brain or other vital organs. Most cases of hemophilia are caused from inherited disorders but sometimes people can get it from vitamin K deficiency, liver disease, or treatments like prolonged use of antibiotics or anti coagulation drugs. Hemophilia is the best known bleeding disorder and it has had the most research done on it, so hemophiliacs have a slight advantage over people with other bleeding disorders.

To treat Hemophilia, a Clotting Factor is needed. It is in the shape of powder kept in a small, sterile glass bottle. It has to be kept in the fridge. When needed, The Clotting Factor is mixed with sterile water, then one minute later it can be injected into a vein. It may also be mixed with a large amount of water and injected through an IV.

There are over 140 centers that specialize in hemophilia. Most of these centers are "Comprehensive Care Facilities". Comprehensive care facilities provide all the services needed by a hemophiliac and their family. Services provided include: Primary physician, nurse coordinator, physiotherapist, and dentist. Hemophiliacs require a special dentist because of the higher risk of bleeding. It is recommended that hemophiliacs go to the treatment centers twice a year for a complete check-up.

The basic and most common treatment for patients with hemophilia A and B is factor replacement therapy. Factor replacement therapy is the IV injection of Factor VIII and IX concentrates which help control bleeding. This concentrate comes from two sources: human plasma and genetically engineered cells made by DNA technology. This concentrate is what the hemophiliac is lacking in their own genes. After the injection is given the patients blood becomes "normal" for a couple of hours which gives time for a clot to from at the site of a damaged blood vessel. This treatment is not a permanent cure, within about 3 days there is no trace left in the system. Today's Factor treatments are much more concentrated than they were in the past so very little is required even if the patient is going in for major surgery or has a major injury. Treatments are also very convenient, they can be stored at home in the fridge for up to 6 months. So if the patient is injured they don't need to go to the hospital they can give themself an injection at home. After the injection it only takes about 15-20 minutes for the clotting process to begin. There is a risk of contracting other disease such as AIDS from Factor VIII that is made from human plasma, but as technology gets better the cases of AIDS has dropped. There is no possibility of contracting diseases from genetic engineering Factor VIII.

Hemophiliacs can live a long life. The most common reason for early death among patients has been from AIDS related complications.

Any disorder caused totally or in part by a fault (or faults) of the genetic material passed from parent to child is considered a genetic disorder. The genes for many of these disorders are passed from one generation to the next, and children born with a heritable genetic disorder often have one or more extended family members with the same disorder. There are also genetic disorders that appear due to spontaneous faults in the genetic material, in which case a child is born with a disorder with no apparent family history.

Down Syndrome, also known as Trisomy 21, is a chromosome abnormality that effects one out of every 800-1000 newborn babies. During anaphase II of meiosis the sister chromatids of chromosome 21 fail to separate, resulting in an egg with an extra chromosome, and a fetus with three copies (trisomy) of this chromosome. At birth this defect is recognizable because of the physical features such as almond shaped eyes, a flattened face, and less muscle tone than a normal newborn baby. During pregnancy, it is possible to detect the Down Syndrome defect by doing amniocentesis testing. There is a risk to the unborn baby and it is not recommended unless the pregnant mother is over the age of thirty-five. Other non-lethal chromosomal abnormalities include additional osex chromosome abnormalities which is when a baby girl (about 1 in 2,500)is born with one x instead of two (xx) this can cause physical abnormalities and defective reproduction systems. Boys can also be born with extra X's (XXY or XXXY) which will cause reproductive problems and sometimes mental retardation.

Chromosomal Abnormalities In most cases with a chromosomal abnormality all the cells are affected. Defects can have anywhere from little effect to a lethal effect depending on the type of abnormality. Of the 1 in 200 babies born having some sort of chromosomal abnormality, about 1/3 of these results in spontaneous abortion. Abnormalities usually form shortly after fertilization and mom or dad usually has the same abnormality. There is no cure for these abnormalities. Tests are possible early in pregnancy and if a problem is detected the parents can choose to abort the fetus.

Mutation is a permanent change in a segment of DNA.

Mutations are changes in the genetic material of the cell. Substances that can cause genetic mutations are called mutagen agents. Mutagen agents can be anything from radiation from x-rays, the sun, toxins in the earth, air, and water viruses. Many gene mutations are completely harmless since they do not change the amino acid sequence of the protein the gene codes for.

Mutations can be good, bad, or indifferent. They can be good for you because their mutation can be better and stronger than the original. They can be bad because it might take away the survival of the organism. However, most of the time, they are indifferent because the mutation is no different than the original.

The not so harmless ones can lead to cancer, birth defects, and inherited diseases. Mutations usually happen at the time of cell division. When the cell divides, one cell contracts a defect, which is then passed down to each cell as they continue to divide.

Excerpt from:

Human Physiology/Genetics and inheritance - Wikibooks ...

Some people have earlobes that curve up between the lowest point of the earlobe and the point where the ear joins the head; these are known as "free" or "unattached" earlobes, as shown in the upper left of the picture below. Other people have earlobes that blend in with the side of the head, known as "attached" or "adherent" earlobes, as shown in the lower right.

Attached vs. free earlobes are often used to illustrate basic genetics. The myth is that earlobes can be divided into into two clear categories, free and attached, and that a single gene controls the trait, with the allele for free earlobes being dominant. Neither part of the myth is true.

Classroom exercises on earlobe genetics say that there are two distinct categories, free (F) and attached (A). However, many of the papers on earlobe genetics have pointed out that there are many people with intermediate earlobes (Quelprud 1934, Wiener 1937, Dutta and Ganguly 1965). El Kollali (2009) classified earlobes into three types, based on whether the attachment angle was acute, right, or obtuse. To make the picture above, I searched for pictures of professional bicyclists (because they have short hair), found 12 with their ears showing, and arranged them from free to attached. It doesn't look to me as if there are just two categories; instead, there is continuous variation in the height of the attachment point (the "otobasion inferius") relative to the lowest point on the earlobe (the "subaurale"). My own earlobes are exactly halfway in between the two extremes; I couldn't tell you whether my earlobes should be considered free or attached.

Carrire (1922) and Hilden (1922) were among the first to study the genetics of earlobes, and they reached opposite conclusions. Carrire (1922) looked at 15 families and concluded that attached earlobes were dominant. However, all of the offspring of A x A matings had attached earlobes, and there were no F x F matings, so his data are consistent with either free or attached being dominant.

Powell and Whitney (1937) looked at one family and concluded that attached earlobes were recessive. Wiener (1937) responded by pointing out that the "arbitrary classification into two sharply defined types...gives a false picture, since all gradations between the two extremes are encountered." He divided earlobes into four arbitrary groups, from 0 (completely free) to 3 (completely attached). All possible matings, from completely 0 x 0 to 3 x 3, produced some intermediate earlobes. Wiener (1937) concluded that earlobes were determined by more than one gene, or by a singe gene with more than two alleles.

Lai and Walsh (1966) called earlobes in which the lowest point on the earlobe was the attachment point "attached," and they classified all other earlobes as "free." They recorded the following data on families in New Guinea:

If the myth were true, two parents with attached earlobes could not have a child with a free earlobe. There are slightly more A offspring from A x A matings, but the large numbers of F offspring from A x A matings and A offspring from F x F matings indicate that this is not a one-locus, two-allele trait.

Mohanraju and Mukherjee (1973) performed a similar study in India and found similar results:

They found a much stronger association between parents and offspring, but the five F offspring of A x A matings are inconsistent with the myth that this is a one-locus, two-allele trait.

Earlobes do not fall into two categories, "free" and "attached"; there is continuous variation in attachment point, from up near the ear cartilage to well below the ear. While there is probably some genetic influence on earlobe attachment point, family studies show that it does not fit the simple one-locus, two-allele myth. You should not use earlobe attachment to demonstrate basic genetics.

Carrire, R. 1922. ber erbliche Orhformen, insbesondere das angewachsene Ohrlppchen. Zeitschrift fr Induktive Abstammungs- und Vererbungslehre 28: 288-242.

Dutta, P., and P. Ganguly. 1965. Further observations on ear lobe attachment. Acta Genetica 15: 77-86.

El Kollali, R. 2009. Earlobe morphology: a simple classification of normal earlobes. Journal of Plastic, Reconstructive and Aesthetic Surgery 62: 277-280.

Hilden, K. 1922. ber die Form des Ohrlppchens beim Menschen und ihre Abhngigkeit von Erblanglagen. Hereditas 3: 351-357.

Lai, L.Y.C., and R.J. Walsh. 1966. Observations on ear lobe types. Acta Genetica 16: 250-257.

Mohanraju, C., and D.P. Mukherjee. 1973. Ear lobe attachment in an Andhra village and other parts of India. Human Heredity 23: 288-297.

Mowlavi, A., D.G. Meldrum, and B.J. Wilhelmi. 2004. Earlobe morphology delineated by two components: the attached cephalic segment and the free caudal segment. Plastic and Reconstructive Surgery 113: 1075-1076.[not seen yet]

Powell, E.F., and D.D. Whitney. 1937. Ear lobe inheritance: an unusual three-generation photographic pedigree chart. Journal of Heredity 28: 184-186.

Quelprud, T. 1934. Familienforschungen ber Merkmale des usseren Ohres. Zeitschrift f Induktive Abstammungs- und Vererbungslehre 67: 296-299.

Wiener, A.S. 1937. Complications in ear genetics. Journal of Heredity 28: 425-426.

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Myths of Human Genetics: Earlobes

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The study of genetics at the level of the basic building blocks of cells and at the DNA level. Cells are as complex as they are tiny and much is still unknown about the inner workings of these building blocks of life. If you'd like to log hours in a lab and use advanced equipment to help advance the understanding of how cells work, studies in cellular and molecular biology could be for you. Biology is the study of living things, and cellular or molecular biology studies living things on the smallest possible scale. To prepare for a career in cellular or molecular biology, individuals must have a strong understanding of chemistry, statistics and physics. The research of cellular and molecular biologists is integral to things like the development of new medications, the protection of aquatic ecosystems and the improvement of agricultural products. A student pursuing an undergraduate or graduate degree in cellular and molecular Genetics spends time divided between classroom lectures and practical laboratory instruction. Research is an important part of this field, and students must be comfortable using highly advanced pieces of equipment to conduct experiments. In addition, cellular and molecular biology programs teach students about cellular structures and their functions, how cells make and use things like proteins and enzymes and much more. Courses covered in a molecular or cellular biology degree program may include microbiology, epidemiology, microscopy and molecular genetics. The following Study.com articles offer more details about this field of study.

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Track 2:Clinical Genetics

Clinical Genetics is the medical specialty which provides a diagnostic service and "genetic counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. The aim of Genetic Services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. In addition a large number of individuals with birth defects and/or learning disabilities are referred and investigated for genetic factors. Individuals identified through childhood or pregnancy screening programmes also require genetic services. In the future, as the genetic contributions to common later-onset disorders such as diabetes and coronary heart disease are identified, genetic services may be required for those at high risk. Testing for genetic factors that affect drug prescribing will also increasingly become an important activity.

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World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); International Conference on Genetic Counselling AndGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia)

Track 3:Genomics: Disease & Evolution

Genomicsis a discipline ingeneticsthat appliesrecombinant DNA,DNA sequencingmethods, andbioinformaticsto sequence, assemble, and analyze the function and structure ofgenomes(thecompleteset of DNA within a single cell of an organism).Advances in genomics have triggered a revolution in discovery-based research to understand even the most complex biological systems such as the brain.The field includes efforts to determine the entireDNA sequenceof organisms and fine-scalegenetic mapping. The field also includes studies of intragenomic phenomena such asheterosis,epistasis,pleiotropyand other interactions betweenlociandalleleswithin the genome.In contrast, the investigation of the roles and functions of single genes is a primary focus ofmolecular biologyorgeneticsand is a common topic of modern medical and biological research. Research of single genes does not fall into the definition of genomics unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.

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Cell &Gene TherapyCongress, 19-21 May 2016 (San Antonio, USA); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); 2nd International Congress on Neuroimmunology and Therapeutics, March 31-April 02, 2016 (Atlanta, USA); 2nd International Conference and Exhibition on Antibodies, July 14-15, 2016 (Philadelphia, USA); 16th International Congress of Immunology, August 21-26, 2016 (Melbourne, Australia); IMMUNOLOGY 2016, AAI Annual Meeting, May 1317, 2016 (Seattle, WA); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia)

Track 4: Cancer Genetics:

Canceris agenetic disorderin which the normal control ofcell growthis lost.Cancer geneticsis now one of the fastest expandingmedical specialties. At themolecularlevel, cancer is caused bymutation(s)inDNA, which result in aberrantcellproliferation. Most of these mutations areacquiredand occur insomatic cells. However, some peopleinherit mutation(s) in thegerm line. The mutation(s) occur in two classes of cellulargenes:oncogenesandtumor suppressor genes. Under normal conditions, tumor suppressor genes regulate cellular differentiation and suppression of proliferation. Mutations in these genes result in unchecked cellular proliferation resulting in tumors with abnormalcell cyclesand tumor proliferation. The tumor suppressor genes contribute to cancer by the inactivating ofloss of function mutation.

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Track 5:Stem cells and Regenerative Medicine

Many of the stem cells being studied are referred to aspluripotent, meaning they can give rise to any of the cell types in the body but they cannot give rise on their own to an entirely new body. (Only the earliest embryonic cells, which occur just after fertilization, can give rise to a whole other organism by themselves.) Other stem cells, such as the ones found in the adult body, aremultipotent, meaning they can develop into a limited number of different tissue types. One of the most common stem cell treatments being studied is a procedure that extracts a few stem cells from a person's body and grows them in large quantities in the laboratorywhat scientists refer to as expanding the number of stem cells. Once a sufficient number have been produced in this manner, the investigators inject them back into the patient. You could say that medicine up until now has been all about replacements. If your heart valve isn't working, you replace it with another valve, say from a pig. With regenerative medicine, you're treating the cause and using your own cells to perform the replacement. The hope is that by regenerating the tissue, you're causing the repairs to grow so that it's like normal.

Genetic disorders may or may not be heritable, i.e., passed down from the parents' genes. In non-heritable genetic disorders, defects may be caused by new mutations or changes to the DNA

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Track 6:Cancer and Genome Integrity

The research program in the Genome Integrity is focused on the exploration of the causes and effects of genomic instability, mechanisms of DNA repair and the study of DNA repair breakdown as an initiating or protective event in aging and cancers. The program will emphasize a mechanistic understanding of the pathways that maintain genomic integrity, the intersection of these pathways with normal cellular physiology and cancer and the application of these insights to the development of new therapeutic strategies.The Genome integrity has made major contributions towards a detailed understanding of DNA repair pathway selection as a primary influence on genomic stability and drug resistance/sensitivity in breast and ovarian cancers and the influential role of DNA repair proteins in the promotion of specific hematological malignancies

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Track 7:Diabetes and Obesity

The UK is officially the 'fattest' country in Europe, with approximately1 in 5adults overweight and one in every 15 obese. Over the next 20 years, the number of obese adults in the country is forecast to soar by a staggering 73% to 26 million people. According to health experts, such a rise would result in more than a million extra cases oftype 2 diabetes,heart diseaseandcancer. Obesity is also no longer a condition that just affects older people, although the likelihood does increase with age, and increasing numbers of young people have been diagnosed with obesity. While the exact causes of diabetes are still not fully understood, it is known that factors up the risk of developing different types of diabetes mellitus.For type 2 diabetes, this includes being overweight or obese (having a body mass index - BMI - of 30 or greater).In fact, obesity is believed to account for 80-85% of the risk of developing type 2 diabetes, while recent research suggests that obese people are up to 80 times more likely to develop type 2 diabetes than those with aBMI of less than 22.

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Track 8:Congenital disorders

Congenital disorder, also known ascongenital disease,birth defectoranomaly is a condition existing at or beforebirth regardless of cause. Of these diseases, those characterized by structural deformities are termed "congenital anomalies" and involve defects in a developingfetus. Birth defects vary widely in cause and symptoms. Any substance that causes birth defects is known as ateratogen. Some disorders can be detected before birth throughprenatal diagnosis(screening). Birth defects are present in about 3% of newborns in USA.Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990.[9]The type with the greatest numbers of deaths arecongenital heart disease(323,000), followed byneural tube defects(69,000).

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Track 9:Cytogenetics

Cytogeneticsis a branch ofgeneticsthat is concerned with the study of the structure and function of the cell, especially the chromosomes. It includes routine analysis ofG-bandedchromosomes, other cytogenetic banding techniques, as well asmolecular cytogeneticssuch asfluorescentin situhybridization(FISH) andcomparative genomic hybridization(CGH). Chromosomes were first observed in plant cells byKarl Wilhelm von Ngeliin 1842. Their behavior in animal (salamander) cells was described byWalther Flemming, the discoverer ofmitosis, in 1882. The name was coined by another German anatomist,von Waldeyerin 1888.

The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (thekaryotype) was the carrier of the genes. Levitsky seems to have been the first to define the karyotype as thephenotypicappearance of thesomaticchromosomes, in contrast to theirgeniccontents. Investigation into the human karyotype took many years to settle the most basic question: how many chromosomes does a normaldiploidhuman cell contain? In 1912,Hans von Winiwarterreported 47 chromosomes inspermatogoniaand 48 inoogonia, concluding anXX/XOsex determinationmechanism. Painterin 1922 was not certain whether the diploid number of man was 46 or 48, at first favoring 46.He revised his opinion later from 46 to 48, and he correctly insisted on man having anXX/XYsystem. Considering their techniques, these results were quite remarkable.

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Track 10:Transplantation

Transplantation is the transfer (engraftment) of human cells, tissues or organs from a donor to a recipient with the aim of restoring function(s) in the body. When transplantation is performed between different species, e.g. animal to human, it is named xenotransplantation. Development of the field of organ and tissue transplantation has accelerated remarkably since the human major histocompatibility complex (MHC) was discovered in 1967. Matching of donor and recipient for MHC antigens has been shown to have a significant positive effect on graft acceptance. The roles of the different components of the immune system involved in the tolerance or rejection of grafts and in graft-versus-host disease have been clarified. These components include: antibodies, antigen presenting cells, helper and cytotoxic T cell subsets, immune cell surface molecules, signaling mechanisms and cytokines that they release. The development of pharmacologic and biological agents that interfere with the alloimmune response and graft rejection has had a crucial role in the success of organ transplantation Combinations of these agents work synergistically, leading to lower doses of immunosuppressive drugs and reduced toxicity. Reports of significant numbers of successful solid organ transplants include those of the kidneys, liver, heart and lung. The use of bone marrow transplantation for hematological diseases, particularly hematological malignancies and primary immunodeficiencies, has become the treatment of choice in many of these conditions

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Track 11:Neurodevelopmental disorders

Neurodevelopmental disordersare impairments of the growth and development of the brain orcentral nervous system. A narrower use of the term refers to a disorder of brain functionthat affectsemotion,learning ability,self-controlandmemoryand that unfolds as the individualgrows. The term is sometimes erroneously used as an exclusive synonym forautismandautism spectrumdisorders. The development of the brain is orchestrated, tightly regulated, and genetically encoded process with clear influence from the environment. This suggests that any deviation from this program early in life can result in neurodevelopmental disorders and, depending on specific timing, might lead to distinct pathology later in life. Because of that, there are many causes of neurodevelopmental disorder, which can range from deprivation,geneticandmetabolic diseases, immune disorders,infectious diseases,nutritionalfactors, physical trauma, and toxic and environmental factors. Some neurodevelopmental disorderssuch asautismand otherpervasive developmental disordersare considered multifactorialsyndromes(with many causes but more specific neurodevelopmental manifestation).

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Track12:Pharmacogenetics

Pharmacogeneticsis the study of inheritedgeneticdifferences in drugmetabolic pathwayswhich can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects.The term pharmacogenetics is often used interchangeably with the termpharmacogenomicswhich also investigates the role of acquired and inherited genetic differences in relation to drug response and drug behavior through a systematic examination of genes, gene products, and inter- and intra-individual variation in gene expression and function. In oncology,pharmacogeneticshistorically is the study ofgerm line mutations(e.g.,single-nucleotide polymorphismsaffecting genes coding for liver enzymes responsible for drug deposition andpharmacokinetics), whereaspharmacogenomicsrefers tosomatic mutationsintumoralDNA leading to alteration in drug response (e.g.,KRASmutations in patients treated withanti-Her1biologics).

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Track13:Pharmacogenomics

Pharmacogenomics is the study of how genes affect a persons response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a persons genetic makeup. Many drugs that are currently available are one size fits all, but they dont work the same way for everyone. It can be difficult to predict who will benefit from a medication, who will not respond at all, and who will experience negative side effects (called adverse drug reactions). Adverse drug reactions are a significant cause of hospitalizations and deaths in the United States. With the knowledge gained from the Human Genome Project, researchers are learning how inherited differences in genes affect the bodys response to medications. These genetic differences will be used to predict whether a medication will be effective for a particular person and to help prevent adverse drug reactions.The field of pharmacogenomics is still in its infancy. Its use is currently quite limited, but new approaches are under study in clinical trials. In the future, pharmacogenomics will allow the development of tailored drugs to treat a wide range of health problems, including cardiovascular disease,Alzheimer disease, cancer, HIV/AIDS, and asthma.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track14:Drug discovery

Driven by chemistry but increasingly guided by pharmacology and the clinical sciences,drugresearch has contributed more to the progress of medicine during the past century than any other scientific factor. Improving the science ofdrug developmentand regulation is important in fulfilling the public health. The advent of molecular biology and, in particular, of genomic sciences is having a deep impact ondrug discovery. Emphasis is placed on the contrast between the academic and industrial research operating environments, which can influence the effectiveness of research collaboration between the two constituencies, but which plays such an important role indrug innovation. The strategic challenges that research directors face are also emphasized.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track15:Bioinformatics in Human Genetics

Recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the growing role of hospital information technology (IT) systems and electronic health records, amass ever-increasing amounts of data before human genetics scientists and clinicians. However, they have ever-improving tools to analyze those data for research and clinical care. Correspondingly, the field of bioinformatics is turning to research questions in the field of human genetics, and the field of human genetics is making greater use of bioinformatic algorithms and tools. The choice of "Bioinformatics and Human Genetics" as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in human genetics. Experts from among the attendees of the Paris 2010 Human Variome Project symposium provide a survey of some of the "hot" computational topics over the next decade. These experts identify the promise-what human geneticists who are not themselves bioinformaticians stand to gain-as well as the challenges and unmet needs that are likely to represent fruitful areas of research.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track16:Anthropology

Anthropologyis the study ofhumanity.Its main subdivisions aresocialandcultural anthropology, which describes the workings of societies around the world,linguistic anthropology, which investigates the influence of language in social life, and biological or physical anthropology. Anthropology concerns long-term development of the human organism.Archaeology, which studies past human cultures through investigation of physical evidence, is thought of as a branch of anthropology in the United States, although in Europe, it is viewed as a discipline in its own right, or grouped under related disciplines such as history.

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1. Scope and Importance of Human Genetics:

Scope: The Scope of the conference is to gather all the Doctors, Researchers, Business Delegates and Scientists to approach and deliver all the attendees about the latest scientific advancements on the respective sphere. This Human Genetics Conference is the premier event focusing on understanding individual and organizational behaviour and decision-making related to genetics and molecular biology, biotechnology, pharmaceuticals, medicals and academia.

Importance: Conference on Human Genetics is a much celebrated conference which basically deals with the latest research and developments in the sphere of genetics and molecular biology. This Conference will provide a perfect platform to all the International mix of leading Research Scholars, and Scientists achieved eminence in their field of study, research academicians from the universities and research institutions, industrial research professionals and business associates along with Ph.D. Students to come and inform all the attendees about the latest scientific advancements on the respective sphere.

2. Why its in Valencia, Spain?

In the last decade, pre-implantation genetic diagnosis and screening (PGD; PGS) have become widely used in IVF treatments: in 2005 nearly 6000 PGD/PGS (5 per cent of all IVF cycles) had been performed in Europe. The diffusion of these technologies, however, is not homogenous; whilst in some countries PGD is prohibited and in others is hardly implemented, Spain performs 33 per cent of all the PGD/PGS (ESHRE 2007). Combining the analysis of juridical documents with semi-structured interviews to past and present members of the Spanish National Assisted Reproduction Committee (CNRHA), this study suggests that the remarkable diffusion of PGD/PGS in Spain may be largely due to the interaction between the growing momentum enjoyed by embryonic stem cell research and a vibrant expansion of IVF business along the Mediterranean coast. In this process, genetic issues per se seem to play a minor role, although the prevention of genetic diseases constitutes the formal rationale for the extension of PGD from monogenic, early onset diseases to polygenic, late-onset ones.

3. Member Associated with Human Genetics Research

The Members who are associated with Genetics Research includes Societies, Associations, Institutes, Universities and other Research Organizations.

A. City Statistics: Approximately, more than 2876 members involved in Genetics and related researches in the city of Valencia.

B. Country Statistics: Approximately, more than 17775 members involved in Genetics and related researches in Spain.

C. Worldwide statistics: Europe: Approximately, more than 56083 members involved in Genetics and related researches. USA: Approximately, more than 24285 members involved in Genetics and related researches. Global: Approximately, 1291100 members involved in Genetics and related researches.

4. Societies Associated with Human Genetics Research

Some of the renowned societies involved in genetic research

A. Societies in Valencia and Spain:

B. Societies in Europe:

C. Societies in Globe:

5. Industries Associated with Human Genetics Research:

The Major Industries or Companies and laboratories associated with Genetics research are listed below:

A. By City - Some of the major companies in Valencia:

Sistemas Genomicos, Reproductive Genetics Unit, Paterna (Valencia); Instituto de Medicina Genmica, IMEGEN, Paterna (Valencia); LifeSequencing; Oncovision etc.

B. By Country Some of the major companies in Spain:

AC-Gen Reading Life SL, Valladolid; Cidegen, SL, Salamanca; Diagnostico Genetico Canarias, Las Palmas de Gran Canaria; Genetadi Biotech, GENETADI, Derio-BILBAO (SPAIN); GENETAQ, Molecular Genetics Centre, Malaga; Genetracer Biotech, Santander; Genyca, Madrid; Health in Code S.L., Corua; Innovagenomics S.L, Innovagenomics, Salamanca; Diagnostics in Iron Metabolism Diseases (DIRON), Badalona

C. Global:

Abbott Laboratories; AutoGenomics; Biocartis; Bio-Rad Laboratories; Cepheid; EKF Diagnostics; Elitech Group; IntegraGen; Interpace Diagnostics; Myriad Genetics; Perkin Elmer; Qiagen; Quest Diagnostics; Roche Diagnostics; WaferGen Biosystems

6. Universities Associated with Human Genetics

A. City Statistics:

University of Valencia , Universidad catolica de Valencia, Valencian international university, CEU Cardenal Herrera University, La Universidad Catlica de Valencia

B. Country Statistics - Spain:

University of Zaragosa, University of Barcelona, Universitat Pompeu Fabra, Universidad Complutense de Madrid , Universidad Autonoma de Madrid

C. Worldwide Statistics:

European university Switzerland, Vilnius university, Uppsala University, Universita degli study di Torino, Maastricht University, Graz University of Technology, Harvard University, Leiden University Medical Center, Center for Human and Clinical Genetics, University of Oxford, Stanford University, University of Cambridge.

7. Market Value on Human Genetics Research:

The global market for Genetic Testing is forecast to reach US$2.2 billion by 2017. Increasing knowledge about the potential benefits in genetic testing is one of the prime reasons for the growth of the genetic testing market. Advancements in the genetic testing space, aging population and a subsequent rise in the number of chronic diseases, and increasing incidence of cancer cases are the other factors propelling growth in the genetic testing market.

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Genetics Conferences | Human Genetics Conferences | Europe ...

Y.W. Kans pioneering research into the hemoglobinopathies sickle cell anemia and thalassemia has widely impacted genetic research, diagnostics, and treatment of human disease. The Institute for Human Genetics is proud to recognize Y.W. Kan with a symposium honoring his decades-long contributions.

Y.W. Kan arrived at UCSF in the 1970s when he and many others (including Herb Boyer and Bishop & Varmus) helped usher in the era of molecular genetics. With long-time collaborator Andre Dozy, he discovered the first polymorphism in human DNA by Southern blot analysis in 1978, launching the ability to map genes on human chromosomes.

He and another long-time collaborator, Judy Chang, used those same techniques in 1979 to show how missing genes cause disease. He is the recipient of many national and international awards for his contributions. He continues to investigate the treatment of these diseases using stem cell and iPS cell therapies.

The Symposium will feature presentations from James Gusella, Katherine High, Dennis Lo, Bertram Lubin, Robert Nussbaum, Stuart Orkin, and Griffin Rodgers. Stuart Orkin will be featured as the 2015 Charles J. and Lois B. Epstein Visiting Professor.

Featured topics will includegene mapping, gene therapy, hemoglobinopathies, and non-invasive prenatal testing.

The IHG Symposium will be held November 2, 2015 at 1:00-6:30 in Cole Hall on the UCSF Parnassus campus and will include a poster session and awards.

IHG Symposium website|Register Now

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The personal genomics firm is ramping up its suite of disease-related genetic tests.

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In a small study of male twins, nine methylation sites helped researchers predict a persons sexual orientation.

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Duplication of copy number variants may be the source of greatest diversity among people, researchers find.

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By Bob Grant | July 23, 2015

Two genetic studies seeking to determine how people first migrated to North and South America yield different results.

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Researchers link variations in two genes to cases of major depressive disorder in two large cohorts.

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By Anna Azvolinsky | July 15, 2015

Scientists identify a human leukocyte antigen gene linked to immune protection from HIV following vaccination.

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A large-scale genome sequencing effort identifies mutations with disease-causing potential at higher rates than expected.

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By Anna Azvolinsky | June 5, 2015

Somatic mosaicism may be responsible for a larger proportion of genomic variability within humans than previously thought.

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By Ruth Williams | May 28, 2015

Sequence analysis of Egyptian, Ethiopian, and non-African peoples indicates a likely route taken by modern humans migrating out of Africa.

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By Ruth Williams | May 21, 2015

Replacing yeast genes with their human equivalents reveals functional conservation despite a billion years of divergent evolution.

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Recent Articles | Human Genetics | The Scientist Magazine

NPG will be exhibiting at the American Society of Human Genetics (ASHG) conference in Baltimore, USA from 6-10 October 2015. Visit the NPG stand for free copies, giveaways and more!

Volume 23, No 10 October 2015 ISSN: 1018-4813 EISSN: 1476-5438

2014 Impact Factor 4.349* 70/289 Biochemistry & Molecular Biology 36/167 Genetics & Heredity

Editor-in-Chief: G-J B van Ommen

Thank you to everyone who attended our 'How to get published' session at ESHG. For those who didn't make it, please see our presentation and booklet which we hope will help with the whole process of publishing.

European Journal of Human Genetics offers authors the option to publish their articles with immediate open access upon publication. Open access articles will also be deposited on PubMed Central at the time of publication and will be freely available immediately. Find out more from the press release or our FAQs page.

The Practical Genetics series delivers a one-stop-shop information resource for genetics clinicians.

Clinical Utility Gene Cards, commissioned by EuroGentest, bring together information on specific diseases and provide clinicians with guidance on disease characteristics and genetic testing.

Latest research highlights and reviews from the NPG family of journals

Author Benefits of publishing in European Journal of Human Genetics

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European Journal of Human Genetics