Human Genetics Biology Project
Type 1 Diabetes documentary.

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Human Genetics Biology Project - Video

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As a teenager in Germany, Steve Horvath, his identical twin Markus and their friend Jrg Zimmermann formed 'the Gilgamesh project', which involved regular meetings where the three discussed mathematics, physics and philosophy. The inspiration for the name, Horvath says, was the ancient Sumerian epic in which a king of Uruk searches for a plant that can restore youth. Fittingly, talk at the meetings often turned to ideas for how science might extend lifespan.

At their final meeting in 1989, the trio made a solemn pact: to dedicate their careers to pursuing science that could prolong healthy human life. Jrg set his eye on computer science and artificial intelligence, Markus on biochemistry and genetics, and Steve says that he planned to use mathematical modelling and gene networks to understand how to extend life. Jrg did end up working in artificial intelligence, as a computer scientist at the University of Bonn in Germany, but Markus fell off the wagon, his brother says, and became a psychiatrist.

Steve, now a human geneticist and biostatistician at the University of California, Los Angeles (UCLA), says that he finally feels poised to make good on the promise. Through a hard-fought project that involved years of solo work, multiple rejections by editors and reviewers and battling through the loss of a child, he has gathered and analysed data on more than 13,000 human tissue samples1. The result is a cellular biological clock that has impressed researchers with its accuracy, how easy it is to read and the fact that it ticks at the same rate in many parts of the body with some intriguing exceptions that might provide clues to the nature of ageing and its maladies.

Horvath's clock emerges from epigenetics, the study of chemical and structural modifications made to the genome that do not alter the DNA sequence but that are passed along as cells divide and can influence how genes are expressed. As cells age, the pattern of epigenetic alterations shifts, and some of the changes seem to mark time. To determine a person's age, Horvath explores data for hundreds of far-flung positions on DNA from a sample of cells and notes how often those positions are methylated that is, have a methyl group attached.

He has discovered an algorithm, based on the methylation status of a set of these genomic positions, that provides a remarkably accurate age estimate not of the cells, but of the person the cells inhabit. White blood cells, for example, which may be just a few days or weeks old, will carry the signature of the 50-year-old donor they came from, plus or minus a few years. The same is true for DNA extracted from a cheek swab, the brain, the colon and numerous other organs. This sets the method apart from tests that rely on biomarkers of age that work in only one or two tissues, including the gold-standard dating procedure, aspartic acid racemization, which analyses proteins that are locked away for a lifetime in tooth or bone.

I wanted to develop a method that would work in many or most tissues. It was a very risky project, Horvath says. But now the gamble seems to be paying off. By the time his findings were finally published last year1, the clock's median error was 3.6 years, meaning that it could guess the age of half the donors to within 43 months for a broad selection of tissues. That accuracy improves to 2.7 years for saliva alone, 1.9 years for certain types of white blood cell and 1.5 years for the brain cortex. The clock shows stem cells removed from embryos to be extremely young and the brains of centenarians to be about 100.

Such tight correlations suggest there is something seemingly immutable going on in cells, says Elizabeth Blackburn of the University of California, San Francisco, who won a Nobel prize for her research on telomeres caps on the ends of chromosomes that shorten with age. It could be a clue to undiscovered biology, she suggests. And there may be medical implications in cases in which epigenetic estimates do not match a person's birth certificate.

In the months since Horvath's paper appeared, other researchers have replicated and extended the results. The study has stirred up excitement about potential applications, but also debate about the underlying biology at work.

It's something new, says Peter Visscher, chair of quantitative genetics at the University of Queensland in Australia. If he's right that there is something like an inherently epigenetic clock at work in ageing, that is very interesting. It must be important.

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Biomarkers and ageing: The clock-watcher

A new genome analysis method has confirmed that Neanderthals interbred with ancestors of Eurasians, a new study reports.

The findings, published in the April 2014 issue of the journal Genetics, explains how Neanderthals most likely interbred with modern humans after they migrated out of Africa. The new technique ruled out the other popular theory that humans who left Africa evolved from the same ancestral subpopulation where Neanderthals evolved from.

"Our approach can distinguish between two subtly different scenarios that could explain the genetic similarities shared by Neanderthals and modern humans from Europe and Asia," Konrad Lohse, study co-author and population geneticist at the University of Edinburgh in Scotland,said in a statement.

The method differs from others in that it used one genome from Neanderthals, Eurasians, Africans and chimpanzees rather than comparing genomes from many modern humans. The same method will have other uses to, especially in studies of suspected interbreeding where limited samples are available.

We did a bunch of math to compute the likelihood of two different scenarios," Laurent Frantz, study co-author and evolutionary biologist at Wageningen University in the Netherlands,told The Verge. "We were able to do that by dividing the genome in small blocks of equal lengths from which we inferred genealogy."

Scientists developed the method after studying the history of insect populations in Europe and rare pig species in Southeast Asia.

"This work is important because it closes a hole in the argument about whether Neanderthals interbred with humans. And the method can be applied to understanding the evolutionary history of other organisms, including endangered species," Mark Johnston, editor-in-chief of the journal Genetics, said.

Frantz thinks the study may also change the way evolution is perceived.

"There have been a lot of arguments about what happened to these species," he said. "Some think that we outcompeted [other hominins] or that they were killed by humans, but now we can see that it's not that simple."

Neanderthals may have been recruited into certain human populations that they may have been in contact with on a daily basis. This goes against a commonly held perception of evolution where species struggled to survive.

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Neanderthals Interbred With Humans? New Method Closes A Hole In Evolution Argument

By ASHLEY CHU

With a five-year, $10 million grant from the National Institute of Child Health and Human Development, a Center for Reproductive Genetics will be established on both Cornells Ithaca and Weill Cornell Medical School campuses.

The CRG is aimed at understanding the genetic basis for processes that give rise to healthy gametes for reproduction, said Prof. Paula Cohen, biomedical sciences, who is director of the CRG. If you dont have healthy eggs and sperm, then this can lead to all sorts of issues such as birth defects, miscarriages, preterm delivery and infertility.

This grant which the University announced it had received on April 1 marks a significant milestone for groups researching reproductive genetics, according to Cohen.

This is the first time that a number of groups are being funded collectively to ask the same questions and, as such, this is likely to bring rapid advances in our knowledge, Cohen said. In science, so often we work in isolated bubbles, but this center grant, which encompasses five different investigators in four different projects, is likely to lead to bigger and quicker advances.

The center aims to address these issues at the basic research level in a joint effort between the two campuses, which Cohen describes as the bench-to-bedside approach.

Given that the CRG is based on both the Ithaca and Weill Cornell campuses, we hope to translate our findings from the lab into the clinic to help infertile couples and to understand how birth defects arise in humans, Cohen said.

The CRGs research focus is to understand how healthy gametes are produced, but more specifically, how the defects that arise during gametogenesis are produced.

This grant will enable cutting-edge research, using the latest technological advances and discoveries, to better understand fundamental processes in mammalian spermatogenesis. Jen Grenier

Given how important healthy eggs and sperm are for sexual reproduction and how conserved the genetic processes are that give rise to these cells, its surprising to find that human gametogenesis the process that gives rise to sperm and eggs is extremely error prone, Cohen said. In fact, between 40 and 60 percent of human eggs contain the wrong complement or number of chromosomes, and this situation can lead to spontaneous miscarriages or birth defects such as Down syndrome and Klinefelter syndrome.

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Center for Reproductive Genetics Established With $10 Million Grant

2. Inheritance pattern in human
For more information, log on to- http://shomusbiology.weebly.com/ This video explains about different types of inheritance pattern of human diseases like dom...

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2. Inheritance pattern in human - Video

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4-Apr-2014

Contact: Greg Lester glester@wistar.org 215-898-3943 The Wistar Institute

PHILADELPHIA(April 4, 2014) Colorectal cancer develops in what is probably the most complex environment in the human body, a place where human cells cohabitate with a colony of approximately 10 trillion bacteria, most of which are unknown. At the 2014 American Association for Cancer Research Annual Meeting in San Diego, researchers from The Wistar Institute will present findings that suggest the colon "microbiome" of gut bacteria can change the tumor microenvironment in a way that promotes the growth and spread of tumors.

Their results suggest that bacterial virulence proteins may suppress DNA repair proteins within the epithelial cells that line the colon. The research opens the possibility of modifying colon cancer risk by altering the population makeup of bacteria in the intestines of people at risk due to genetics or environmental exposure.

"There is a drastic, unmet need to look at new ways to define exactly how colon cancer forms in the gut and what triggers its progression into a lethal form," said Frank Rauscher, III, Ph.D., a professor in The Wistar Institute Cancer Center. "We suggest that some bacterial proteins can promote genetic changes that create conditions in the gut that would favor the progression of colon cancer."

While colorectal cancer incidence rates have declined, likely due to more widespread screening, survival rates have not. According to the American Cancer Society, about 50,000 Americans will die from colorectal cancer this year. "While our understanding of the gene mutations involved in colon cancer has improved, this has not lead to the promised increases in overall survival," Rauscher said.

Intestinal bacteria typically provide many benefits to their human hosts, aiding in digestion and crowding out more directly pathogenic bacteria. However, both "friendly" commensal bacteria and infective, pathogenic bacteria have been shown to actively reduce inflammation, an important tool used by the human innate immune system to promote healing and prevent the spread of infection.

In these studies, Rauscher and his colleagues injected anti-inflammatory proteins produced by EPEC (Enteropathogenic Escherichia coli) bacteria into colon epithelial cells. One of these proteins, NLEE, is an enzyme that targets TAB2, a human scaffolding protein involved in the transduction of chemical signals in the NF-B pathway. Targeting TAB2 results in the inactivation of numerous inflammatory activities in the gut.

Rauscher and colleagues looked for other human proteins that could be targeted by NLEE. Remarkably, they found that NLEE also has the capability of shutting off a protein, ZRANB3 involved in DNA repair. If bacterially infected colon cells can no longer repair damage to their DNA, mutations will accumulate, which will promote cancer growth.

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Bacterial gut biome may guide colon cancer progression

It's not a hair-brained idea: A new research report appearing in the April 2014 issue of The FASEB Journal explains why people with a rare balding condition called "atrichia with papular lesions" lose their hair, and it identifies a strategy for reversing this hair loss. Specifically the report shows for the first time that the "human hairless gene" imparts an essential role in hair biology by regulating a subset of other hair genes. This newly discovered molecular function likely explains why mutations in the hairless gene contribute to the pathogenesis of atrichia with papular lesions. In addition, this gene also has also been shown to function as a tumor suppressor gene in the skin, raising hope for developing new approaches in the treatment of skin disorders and/or some cancers.

"Identification of hairless as a histone demethylase may shed new insights into its mechanism of action in regulating skin and hair disorders," said Angela M. Christiano, Ph.D., FACMG, a researcher involved in the work from the Departments of Dermatology and Genetics and Development at the Columbia University College of Physicians and Surgeons in New York, NY. "The genes identified in this study could open up new opportunities for developing mechanism-driven approaches for future prevention or treatment of skin diseases including skin cancer and rare forms of hair loss."

To make their discovery, Christiano and colleagues defined the histone demethylase function of the human hairless gene, both in vitro and using cultured human cells. When the hairless protein was mixed with specific histone substrates under defined reaction conditions, the hairless protein causes a reduction in the level of methylation modification of the histone substrates. Similarly, upon expression of normal hairless protein, but not a mutant form of the hairless protein, researchers observed a drastic loss of histone methylation in human cells. This suggests that this may be the "on/off" switch for hair growth as well as a promising target for some types of skin disease.

"Humans have tried everything to keep their hair, from snake oils to spray-on bald spot solutions," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "Now, however, we are finally getting to the root of the problem to manipulate one of the switches that control hair growth."

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Human 'hairless' gene identified: One form of baldness explained

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1-Apr-2014

Contact: Cody Mooneyhan cmooneyhan@faseb.org 301-634-7104 Federation of American Societies for Experimental Biology

It's not a hair-brained idea: A new research report appearing in the April 2014 issue of The FASEB Journal explains why people with a rare balding condition called "atrichia with papular lesions" lose their hair, and it identifies a strategy for reversing this hair loss. Specifically the report shows for the first time that the "human hairless gene" imparts an essential role in hair biology by regulating a subset of other hair genes. This newly discovered molecular function likely explains why mutations in the hairless gene contribute to the pathogenesis of atrichia with papular lesions. In addition, this gene also has also been shown to function as a tumor suppressor gene in the skin, raising hope for developing new approaches in the treatment of skin disorders and/or some cancers.

"Identification of hairless as a histone demethylase may shed new insights into its mechanism of action in regulating skin and hair disorders," said Angela M. Christiano, Ph.D., FACMG, a researcher involved in the work from the Departments of Dermatology and Genetics and Development at the Columbia University College of Physicians and Surgeons in New York, NY. "The genes identified in this study could open up new opportunities for developing mechanism-driven approaches for future prevention or treatment of skin diseases including skin cancer and rare forms of hair loss."

To make their discovery, Christiano and colleagues defined the histone demethylase function of the human hairless gene, both in vitro and using cultured human cells. When the hairless protein was mixed with specific histone substrates under defined reaction conditions, the hairless protein causes a reduction in the level of methylation modification of the histone substrates. Similarly, upon expression of normal hairless protein, but not a mutant form of the hairless protein, researchers observed a drastic loss of histone methylation in human cells. This suggests that this may be the "on/off" switch for hair growth as well as a promising target for some types of skin disease.

"Humans have tried everything to keep their hair, from snake oils to spray-on bald spot solutions," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "Now, however, we are finally getting to the root of the problem to manipulate one of the switches that control hair growth."

###

Receive monthly highlights from The FASEB Journal by e-mail. Sign up at http://www.faseb.org/fjupdate.aspx. The FASEB Journal is published by the Federation of the American Societies for Experimental Biology (FASEB). It is among the most cited biology journals worldwide according to the Institute for Scientific Information and has been recognized by the Special Libraries Association as one of the top 100 most influential biomedical journals of the past century.

FASEB is composed of 26 societies with more than 115,000 members, making it the largest coalition of biomedical research associations in the United States. Our mission is to advance health and welfare by promoting progress and education in biological and biomedical sciences through service to our member societies and collaborative advocacy.

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The human 'hairless' gene identified: One form of baldness explained

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31-Mar-2014

Contact: Kate Richards media@camh.ca 416-595-6015 Centre for Addiction and Mental Health

(Toronto) March 31, 2014 Researchers at the Centre for Addiction and Mental Health have discovered two new genes linked to intellectual disability, according to two research studies published concurrently this month in the journals Human Genetics and Human Molecular Genetics.

"Both studies give clues to the different pathways involved in normal neurodevelopment," says CAMH Senior Scientist Dr. John Vincent, who heads the MiND (Molecular Neuropsychiatry and Development) Laboratory in the Campbell Family Mental Health Research Institute at CAMH. "We are building up a body of knowledge that is informing us which kinds of genes are important to, and involved in, intellectual disabilities."

In the first study, Dr. Vincent and his team used microarray genotyping to map the genes of a large Pakistani family which had intermarriage. Five members of the youngest generation were affected with mild to moderate intellectual disability. Dr. Vincent identified a truncation in the FBXO31 gene, which plays a role in the way that proteins are processed during development of neurons, particularly in the cerebellar cortex.

In the second study, using the same techniques, Dr. Vincent and his team analyzed the genes of two families with intermarriage, one Austrian and one Pakistani, and identified a disruption in the METTL23 gene linked to mild recessive intellectual disability. The METTL23 gene is involved in methylationa process important to brain development and function.

About one per cent of children worldwide are affected by non-syndromic (i.e., the absence of any other clinical features) intellectual disability, a condition characterized by an impaired capacity to learn and process new or complex information, leading to decreased cognitive functioning and social adjustment. Although trauma, infection and external damage to the unborn fetus can lead to an intellectual disability, genetic defects are a principal cause.

These studies were part of an ongoing study of affected families in Pakistan, where the cultural tradition of large families and consanguineous (inter-) marriages among first cousins increases the likelihood of inherited intellectual disability in offspring.

"Although it is easier to find and track genes in consanguineous families, these genes are certainly not limited to them," Dr. Vincent points out. A recent study estimated that 13 per cent of intellectual disability cases among individuals of European descent are caused when an individual inherits two recessive genes, meaning that results of this study are very relevant to populations such as Canada.

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CAMH researcher discovers 2 new genes linked to intellectual disability

I died in the fire! (Halo: Reach The Hidden Ep.1)
In the early 1950s, during the post war boom in military research, human genetics experiments were taking their first, tentative steps. A team of scientists ...

By: TheRandomiser118

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I died in the fire! (Halo: Reach The Hidden Ep.1) - Video

Since the dawn of civilization people were searching for clues to longevity and trying to extend human lifespan. But only in the past two decades with the advances in genetic sequencing, epigenetic analysis, and increased government investments the area experienced rapid expansion in the knowledge base, allowing scientists to develop comprehensive models and theories of aging. And while there is still much disagreement among scientists, the evolutionary theories are dominating the field. These theories predicted existence of certain genes that provide selective advantage early in life with adverse effects on lifespan later in life or longevity insurance genes. Indeed, the study of human and animal genetics is gradually identifying new genes that increase lifespan when overexpressed or mutated -- gerontogenes. Furthermore, genetic and epigenetic mechanisms are being identified that have positive effects on longevity.

"The study of the effects of mutations and epimutations on life expectancy and the aging rate expands the range of potential pharmacological and genoteraputic targets, as well as biomarkers of treatment of aging-dependent pathologies," said professor Alexey Moskalev, PhD, DSc, head of the laboratories for aging research at the Institute of Biology of the Russian Academy of Sciences and at the Moscow Institute of Physics and Technology.

The international group of scientists performed a comprehensive analysis of the genetic and epigenetic mechanisms and demonstrated that the majority of the genes, as well as genetic and epigenetic mechanisms that are involved in regulation of longevity, are highly interconnected and related to stress response. Also, for the first time, the group performed a comprehensive analysis of government research grants related to the genes involved in aging. One of the tools that may help understand the direction of scientific research that is still unpublished are research grant abstracts. To better understand the general trends in aging genetics, the funding and citation information for the longevity genes was collected using the International Aging Research Portfolio (IARP) system as well as the NCBI PubMed system.

Grants analysis led to interesting conclusions. The science of aging genetics is a comparatively new field. P53 was discovered in 1979 and implicated in aging in 1987. On average, genes in Table 2 were discovered 21 years ago and it took 9.7 years between the first citation and the first citation with "aging." The approximate amount of funding spent on genes related to aging is at over $8.5 billion with over 195,000 citations with the most funding spent on genes involved in stress response. On average approximately 7.4% of the funding was spent on projects with "aging" in the grant application and this was consistent across all three categories. The average amount of funding per citation was over $43,900. The largest amount of funding spent on a single gene with "aging" in the grant abstract was $195 million, which represents fewer than 5% of the total funding spent on P53 research. SIRT1 and homologs is the only gene with over $100 million spent on analyzing its role in aging with just under 14% of the funding spent on non-aging related projects. Most of the genes related to aging and longevity were associated with other biologic processes, and most of the funding and publications citing these genes is related to areas other than aging.

"While most scientists rely on published research data and scientific conferences to follow the advances their areas of research, the vast amount of knowledge is codified in the published research grant abstracts and associated metadata. A comprehensive analysis of government grants and related publications shows that aging research is an emerging field and that only a minor fraction of the research dollars spent on genes implicated in aging and longevity was actually intended for aging research," said professor Alex Zhavoronkov, PhD, director of the Biogerontology Research Foundation, UK.

The team also performed the signaling pathway analysis of the genes implicated in aging and longevity and demonstrated that that most of the gerontogenes are members of the stress response pathways that confirm the existence of genetics "longevity program." As a rule, genes -- regulators of longevity program -- suppress mild stress response and mutations that make some of those pathways less efficient and provide life-extension benefits. Mild overexpression of effector longevity genes, involved with stress-response to DNA, protein, or other cellular damages, prolong lifespan. While moderate stress induces "longevity program" by stimulating expression of life assurance genes and promoting prevention or elimination of errors, including the novel and spontaneous ones, chronic or acute stress exposure exhausts the defense mechanisms and therefore accelerates aging. Pro-aging and anti-aging gene-determined processes exist on all levels of organismal system -- from molecules to systems (metabolic, endocrine, immune, and inter-cellular communication). Their multi-level organization, the interpenetration of levels, a combination of regular and stochastic elements, is what makes the process of aging a fractal process.

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Drilling into trends in genetics, epigenetics of aging, longevity

WEDNESDAY, March 26, 2014 (HealthDay News) -- Scientists say they've constructed an "atlas" that maps the ways human genes are turned on and off, offering potentially important new insights into health and disease.

The new atlas builds on the achievements of the Human Genome Project -- the mapping of all of the approximately 20,500 human genes, first completed in 2003. Speaking at the time of the Human Genome Project's publication, Francis Collins, director of the U.S. National Human Genome Research Institute, called it "a shop manual, with an incredibly detailed blueprint for building every human cell."

The new gene-activity map describes those networks that govern genes' activity in major cells and tissues in the human body, according to a team of 250 experts from more than 20 countries.

"Now, for the first time, we are able to pinpoint the regions of the genome that can be active in a disease and in normal activity, whether it's in a brain cell, the skin, in blood stem cells or in hair follicles," Winston Hide, an associate professor of bioinformatics and computational biology at Harvard School of Public Health, said in a Harvard news release.

"This is a major advance that will greatly increase our ability to understand the causes of disease across the body," added Hide, who was one of the authors of the main paper in the March 27 issue of Nature.

The findings from the three-year project -- called FANTOM5 -- are described in a series of papers published in Nature and 16 other journals. The project was led by the RIKEN Center for Life Science Technologies in Japan.

In their work, Hide and his colleagues mapped the activity of 224,000 switches that turn human genes on and off. The map includes switches -- which are regions of DNA that manage gene activity -- across a wide range of cell and tissue types.

"We now have the ability to narrow down the genes involved in particular diseases based on the tissue cell or organ in which they work," Hide said. "This new atlas points us to the exact locations to look for the key genetic variants that might map to a disease."

"The FANTOM5 project is a tremendous achievement. To use the analogy of an airplane, we have made a leap in understanding the function of all of the parts. And we have gone well beyond that, to understanding how they are connected and control the structures that enable flight," David Hume, director of The Roslin Institute at the University of Edinburgh, Scotland, and a lead researcher on the project, said in a university news release.

"The FANTOM5 project has identified new elements in the genome that are the targets of functional genetic variations in human populations, and also have obvious applications to other species," he added.

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New Gene 'Atlas' Maps Human DNA Activity

Human DNA has much in common with the DNA of the humble yeast cell.

STORY HIGHLIGHTS

(CNN) -- Look miles into the future and imagine a day, when geneticists can design a flawless set of human genes in a laboratory.

That future vision may never arrive, but it has taken a step closer.

Scientists have built a designer chromosome and inserted it into a cell, geneticist Jef Boeke from New York University announced this week.

The chromosome was a heavily altered version, a departure from its natural counterpart. A team of scientists from around the world made 500 changes to its genetic base.

"When you change the genome, you're gambling," said Boeke, who led the project. "One wrong change can kill the cell."

But the cell survived and made use of its new chromosome. It also reproduced, and subsequent cells carried the new chromosome forward.

Actually, make this breakthrough a second step closer to that way-out-there future.

Researchers were already able to duplicate a chromosome on a computer four years ago, build it in the lab, insert it into a cell and watch it work.

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Designer genes take a leap forward

10.2.1 - Recombination Mapping, Intro to Human Genetics
Recombination Mapping, Intro to Human Genetics.

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10.2.1 - Recombination Mapping, Intro to Human Genetics - Video

A new international study has revealed how genetics could explain why different environmental exposures can trigger the onset of different forms of rheumatoid arthritis.

A team at the Arthritis Research UK Centre for Genetics and Genomics at The University of Manchester, part of a large international consortium involving scientists from across 15 academic institutions, believe their findings could have important implications for the way that rheumatoid arthritis is diagnosed and treated.

Publishing their findings in the journal American Journal of Human Genetics, they say that more accurate clinical testing is now needed to better identify the less-well understood type of rheumatoid arthritis and to prevent it being misdiagnosed.

Rheumatoid arthritis is a serious inflammatory form of arthritis, affecting almost 400,000 people in the UK, which causes painful, swollen joints, and in severe cases, considerable disability. It is known to have strong genetic and environmental components.

It was already known that a proportion of rheumatoid arthritis patients test positive for autoantibodies, whilst about 30% remain sero-negative. In this study, the researchers have better defined the genetic distinction between these two disease subtypes: sero-positive and sero-negative rheumatoid arthritis.

They have now established that different genetic variants of a protein that plays a vital role in how the body's immune system fights infection are associated with the two forms of rheumatoid arthritis. This provides clues to the theory that exposure to different infectious agents, such as bacteria or viruses, trigger the different forms of rheumatoid arthritis in susceptible individuals. Sero-negative rheumatoid is less well understood than sero-positive, and patients who have this type of arthritis can be misdiagnosed, leading to inappropriate treatment.

Dr Steve Eyre from the genetics and genomics centre in Manchester commented: "We recognise that rheumatoid arthritis is a complex disease that can have variable presentation and outcomes for different people, in particular in the way they respond to treatment. These findings add to our ability to genetically define subtypes of rheumatoid arthritis, which is an important step towards selecting the best treatment for each patient."

Centre director Professor Jane Worthington added: "Now that we have established a genetic basis for these two types of rheumatoid arthritis, we hope it will lead to patients receiving a swifter, accurate diagnosis and more appropriate, targeted treatment. These findings have opened the door to a better understanding of sero-negative rheumatoid arthritis."

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Genetics can explain why infections can trigger onset of different types of rheumatoid arthritis

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To better understand why and how disease works in the human body, scientists are increasingly turning to genetics for answers. Now, a large international team has made the first detailed map of how genes work within the cells and tissues of the human body.

They have published their research in a series of papers, two of which appear in the journal Nature.

The findings, which describe the intricate networks that oversee gene activity, could help identify the main genes involved in disease.

Calling their atlas a "major advance," Prof. Winston Hide, study author from Harvard School of Public Health, says their findings will better their ability to "understand the causes of disease across the body."

The atlas is the result of years of collaboration between 250 experts from over 20 countries. They were all part of the FANTOM 5 project, which stands for Functional Annotation of the Mammalian Genome.

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Researchers produce first comprehensive atlas of human genes

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A presentation at Genetics Society of America's Drosophila Research Conference builds the case that de novo genes derived from ancestral non-coding DNA can spread through a species.

Earlier this year, researchers in David J. Begun, Ph.D.'s lab at UC Davis reported that they had uncovered 142 de novo genes that originated in the ancestral non-coding DNA sequences and are segregating in Drosophila melanogaster populations.

Dr. Begun and postdoctoral scientist Li Zhao, Ph.D., identified de novo genes by comparing the RNA transcripts of the testes of several wild-derived strains of D. melanogaster to the standard reference genome for this fly species and to the RNA transcripts and genomes of two other Drosophila species.

Their results suggested that these genes may play an important role in Drosophila male reproduction. The UC Davis scientists, who were the first to investigate whether de novo genes spread through a species, next turned their attention to females.

They conducted a systematic search for de novo genes that were expressed in female Drosophila flies and determined that these genes appear to derive primarily from ancestral intergenic sequences, which is similar to the case for male-biased de novo genes.

At the GSA Drosophila Research Conference, Dr. Zhao will report about the female-expressed de novo genes. The population genetics and role of selection on these genes will also be discussed.

Explore further: New genes spring and spread from non-coding DNA

More information: Abstract: "Female-expressed de novo genes in Drosophila." Li Zhao, David J. Begun. abstracts.genetics-gsa.org/cgi-bin/dros14s/showdetail.pl?absno=14531505

Provided by Genetics Society of America

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Female fly genomes also populated with de novo genes derived from ancestral sequences

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(Phys.org) Genetics provides stunning new answers to the question of human evolution, according to Auckland cancer researcher, Dr Graeme Finlay.

Genetic markers that are used to follow the development of populations of cells have exactly the same character as those that track the development of species, says Dr Finlay who has just published a book on genetics and human evolution.

His book, 'Human Evolution: Genes, Genealogies and Phylogenies', was published by Cambridge University Press late last year.

Dr Finlay is senior lecturer in Scientific Pathology at the Department of Molecular Medicine and Pathology, and an Honorary Senior Research Fellow at the Auckland Cancer Society Research Centre, in the University of Auckland.

"Controversy over human evolution remains widespread, but the human genome project and genetic sequencing of many other species have provided myriad precise and unambiguous genetic markers that establish our evolutionary relationships with other mammals," says Dr Finlay.

This book identifies and explains these identifiable, rare and complex markers including endogenous retroviruses, genome-modifying transposable elements, gene-disabling mutations, segmental duplications and gene-enabling mutations.

These new genetic tools also provide fascinating insights into when and how many features of human biology arose: from aspects of placental structure, vitamin C dependence and trichromatic vision, to tendencies to gout, cardiovascular disease and cancer.

The book brings together a decade's worth of research and ties it together to provide an overwhelming argument for the mammalian ancestry of the human species.

Dr Finlay says he hopes the book will be of interest to professional scientists, undergraduate and college students in both the biological and biomedical sciences, and to anyone including theologians concerned with the scientific evidences for evolution.

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Genetic markers provide unprecedented primate link in human evolution

Your DNA hides more than you think: Adrian Creu at TEDxChisinau: Postcards from the future
Biomedical engineer at a private clinic in Chiinu and researcher in genetics. Member of European Society of Human Genetics. After graduating the University...

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26-Mar-2014

Contact: Jane Tadman j.tadman@arthritisresearchuk.org 44-124-654-1107 University of Manchester

A new international study has revealed how genetics could explain why different environmental exposures can trigger the onset of different forms of rheumatoid arthritis.

A team at the Arthritis Research UK Centre for Genetics and Genomics at The University of Manchester, part of a large international consortium involving scientists from across 15 academic institutions, believe their findings could have important implication for the way that rheumatoid arthritis is diagnosed and treated.

Publishing their findings in the journal American Journal of Human Genetics, they say that more accurate clinical testing is now needed to better identify the less-well understood type of rheumatoid arthritis and to prevent it being misdiagnosed.

Rheumatoid arthritis is a serious inflammatory form of arthritis, affecting almost 400,000 people in the UK, which causes painful, swollen joints, and in severe cases, considerable disability. It is known to have strong genetic and environmental components.

It was already known that a proportion of rheumatoid arthritis patients test positive for autoantibodies, whilst about 30% remain sero-negative. In this study, the researchers have better defined the genetic distinction between these two disease subtypes: sero-positive and sero-negative rheumatoid arthritis.

They have now established that different genetic variants of a protein that plays a vital role in how the body's immune system fights infection are associated with the two forms of rheumatoid arthritis. This provides clues to the theory that exposure to different infectious agents, such as bacteria or viruses, trigger the different forms of rheumatoid arthritis in susceptible individuals. Sero-negative rheumatoid is less well understood than sero-positive, and patients who have this type of arthritis can be misdiagnosed, leading to inappropriate treatment.

Dr Steve Eyre from the genetics and genomics centre in Manchester commented: "We recognise that rheumatoid arthritis is a complex disease that can have variable presentation and outcomes for different people, in particular in the way they respond to treatment. These findings add to our ability to genetically define subtypes of rheumatoid arthritis, which is an important step towards selecting the best treatment for each patient."

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Genetics can explain why infections can trigger rheumatoid arthritis