09 Lecture 09 Human Genetics
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Category Archives: Human Genetics
A Shot in the Arm for Evolutionary Genetics Research | Pew – Video
A Shot in the Arm for Evolutionary Genetics Research | Pew
http://www.pewscholars.org 2012 Pew biomedical scholar Nels Elde studies the evolution of conflict -- how the process of infection can drive some of the most dramatic adaptations seen in nature....
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A Shot in the Arm for Evolutionary Genetics Research | Pew - Video
Broad Paper Vids: Natural selection and infectious disease in human populations – Video
Broad Paper Vids: Natural selection and infectious disease in human populations
Copyright Broad Institute, 2014. All rights reserved. Broad Paper Vids: Natural selection and infectious disease in human populations In the first installment of "Broad Paper Vids," researcher...
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Broad Paper Vids: Natural selection and infectious disease in human populations - Video
Untangling Whole Genomes of Individual Species From a Microbial Mix
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Newswise BETHESDA, MD May 23, 2014 A new approach to studying microbes in the wild will allow scientists to sequence the genomes of individual species from complex mixtures. It marks a big advance for understanding the enormous diversity of microbial communities including the human microbiome. The work is described in an article published May 22 in Early Online form in the journal G3: Genes|Genomes|Genetics, published by the Genetics Society of America.
This new method will allow us to discover many currently unknown microbial species that cant be grown in the lab, while simultaneously assembling their genome sequences, says co-author Maitreya Dunham, a biologist at the University of Washingtons Department of Genome Sciences.
Microbial communities, whether sampled from the ocean floor or a human mouth, are made up of many different species living together. Standard methods for sequencing these communities combine the information from all the different types of microbes in the sample. The result is a hodgepodge of genes that is challenging to analyze, and unknown species in the sample are difficult to discover.
Our approach tells us which sequence fragments in a mixed sample came from the same genome, allowing us to construct whole genome sequences for individual species in the mix, says co-author Jay Shendure, also of the University of Washingtons Department of Genome Sciences.
The key advance was to combine standard approaches with a method that maps out which fragments of sequence were once near each other inside a cell. The cells in the sample are first treated with a chemical that links together DNA strands that are in close proximity. Only strands that are inside the same cell will be close enough to link. The DNA is then chopped into bits, and the linked portions are isolated and sequenced.
This elegant method enables the study of microbes in the environment, says Brenda Andrews, editor-in-chief of the journal G3: Genes|Genomes|Genetics. Andrews is also Director of the Donnelly Centre and the Charles H. Best Chair of Medical Research at the University of Toronto. It will open many windows into an otherwise invisible world.
At a time when personal microbiome sequencing is becoming extremely popular, this method breaks important ground in helping researchers to build a complete picture of the genomic content of complex mixtures of microorganisms. This complete picture will be crucial for understanding the impact of varying microbiome populations and the relevance of particular microorganisms for individual health.
CITATION: Species-Level Deconvolution of Metagenome Assemblies with Hi-C-Based Contact Probability Maps Joshua N. Burton, Ivan Liachko, Maitreya J. Dunham, and Jay Shendure. G3: Genes|Genomes|Genetics g3.114.011825; Early Online May 22, 2014, doi:10.1534/g3.114.011825; PMID 24855317.
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Untangling Whole Genomes of Individual Species From a Microbial Mix
Fish study could advance medicine
A small fish that East Carolina University biologist Jeff McKinnon collected as a boy growing up in British Columbia will be the centerpiece of a study that could give insight to human genetics.
McKinnon, professor and chair of biology at ECU, is studying the threespine stickleback to find out why the bright colors of the male, which help it attract mates, sometimes show up in females. The findings could give scientists insight into the genes behind sex differences and help tailor medicine to better suit patients sex and race.
McKinnon and co-investigators Chris Balakrishnan of ECU and Catherine Peichel of the Fred Hutchinson Cancer Research Center in Seattle, have received a $316,241 grant from the National Institute of General Medical Sciences to fund the three-year study.
The fish lives on the northern Pacific and Atlantic coasts of Europe and Asia as well as North America. Fish from many populations spend most of their lives in the ocean but breed in brackish and fresh water. Purely freshwater forms also have evolved, independently on different continents and islands.
We are trying in general to understand how the sexes diverge despite sharing many genes, McKinnon said. This is a critical issue for medicine as well as evolution. We are looking at the genes involved and at patterns of gene expression.
McKinnon has studied the threespine stickleback for much of his career. His early work helped develop the stickleback as a model organism for genetic and evolutionary studies since it shows great morphological variation.
We hope to ... better understand the genetic mechanisms responsible for causing seemingly male traits to appear in female animals in some populations, McKinnon said. We also want to know if females who possess one male-like trait are only masculinized for that trait or more generally.
The research will shed light on whether some male-like traits are present in females because they benefit females or as a by-product of the benefits they provide to males and vice-versa, McKinnon said. Given the interest in better tailoring medicine by gender and ethnicity, we may provide useful insights on matters important to health.
ECU doctoral student Lenny Yong is playing a key role in this research program and helped write the grant application. The grant also will support the research of two masters students and a number of undergraduates who will be trained in behavioral studies, genetics and genomics.
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Nine young scientists awarded by the Genetics Society of America for fruit fly research
PUBLIC RELEASE DATE:
20-May-2014
Contact: Raeka Aiyar, Ph.D. press@genetics-gsa.org 301-634-7302 Genetics Society of America
BETHESDA, MD (May 20, 2014) -- The Genetics Society of America (GSA) and the Drosophila research community are pleased to announce the winners of GSA Poster Awards at the 55th Annual Drosophila Research Conference, which took place in San Diego, March 26-30, 2014. These awards were made to undergraduate, graduate student, and postdoctoral researchers in recognition of the work they presented at the conference. Their projects, using the fruit fly Drosophila melanogaster as a model organism, spanned a diverse range of topics on the genetic and molecular basis of fundamental biological processes.
"We were very impressed with both the quality of the research and the clarity of presentation by the winning candidates," noted Adam P. Fagen, PhD, GSA's Executive Director. "It is gratifying to see such inspiring work by members of our community so early in their careers. We look forward to hearing much more about their contributions in the years to come. "
The recipients were chosen from 789 posters presented at the meeting, 561 of which were authored by GSA members and therefore eligible for an award.
2014 Drosophila Research Conference Poster Award Winners (for full release and photos, please visit the release URL http://www.genetics-gsa.org/media/releases/GSA_PR_20140520_Dros_poster_awards.pdf)
Postdoctoral Winners
FIRST PRIZE: Melanie I. Worley, University of California, Berkeley, USA Poster Title: "Chameleon: a mutant with an increased frequency of notum-to-wing transdetermination" Principal Investigator: Iswar K. Hariharan
SECOND PRIZE: Malini Natarajan, Stowers Institute for Medical Research, Kansas City, MO, USA Poster Title: "Genome-wide analysis of tissue-specific effector genes in the Drosophila embryo" Principal Investigator: Julia Zeitlinger
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Nine young scientists awarded by the Genetics Society of America for fruit fly research
Saying 'I Do' Because of Similar DNA?
Dennis Thompson HealthDay Reporter Posted: Monday, May 19, 2014, 4:00 PM
MONDAY, May 19, 2014 (HealthDay News) -- Married couples typically have a lot in common, and researchers now say that may extend to their genes.
Spouses tend to be more genetically similar than two people chosen off the street at random, according to a new study.
It's likely this is because people who are genetically similar have more opportunities to meet and mate -- in other words, "birds of a feather flock together," said lead author Benjamin Domingue, a research associate at the University of Colorado-Boulder's Institute of Behavioral Science.
"Genes drive so many things that can structure opportunities and outcomes that determine who we mate," Domingue said. For example, genes may determine whether your potential partner shares your height or weight, or your ethnic background, religion or level of education.
Domingue and his colleagues examined the genetics of 825 white heterosexual American married couples, comparing 1.7 million potential points of genetic similarity.
The results, published May 19 in the Proceedings of the National Academy of Sciences, found that spouses share a significant number of genetic similarities, compared to any two random individuals.
This conclusion could end up changing the statistical models scientists use to understand genetic differences between human populations, because such models often assume random mating, the researchers said.
The similarity between married folks is not nearly as deep as that between siblings, though.
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CSHL Keynote: Dr. Peter Donnelly, Wellcome Trust Centre for Human Genetics – Video
CSHL Keynote: Dr. Peter Donnelly, Wellcome Trust Centre for Human Genetics
"Genomic Discovery: Mechanisms of Meiotic Recombination" from the 2014 Biology of Genome Meeting.
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CSHL Keynote: Dr. Peter Donnelly, Wellcome Trust Centre for Human Genetics - Video
Rutgers' Human Genetics Institute Wins $19 Million Federal Contract
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Newswise NEW BRUNSWICK, N.J. The National Institute on Drug Abuse (NIDA) has awarded a five-year contract worth up to $19 million to RUCDR Infinite Biologics, a unit of Rutgers Human Genetics Institute of New Jersey. The worlds largest university-based biorepository, RUCDR Infinite Biologics is located on Rutgers Busch Campus in Piscataway.
Under the new contract, RUCDR will expand and enhance the services it provides through its NIDA Center for Genetic Studies, which it has supported for the past 15 years. The Center provides genomic services to NIDA-funded researchers.
Because the Rutgers operation has been continuously acquiring new equipment and systems, and refining the techniques its staff employs, the genomic testing and analysis for NIDA studies will be significantly more sophisticated than in previous years, according to Jay Tischfield, CEO and founder of RUCDR Infinite Biologics and the Duncan and Nancy Macmillan Distinguished Professor of Genetics at Rutgers.
Under this new contract with NIDA, we will be utilizing innovative technologies to support research, such as microarray typing and high-throughput sequencing for genomic and epigenomic analyses, Tischfield said. We also will support NIDA projects that employ induced pluripotent stem cells to facilitate the molecular and cellular study of brain development and addiction processes.
The NIDA Center for Genetic Studies is a scientific resource for informing the human molecular genetics of drug addiction. The center stores clinical and diagnostic data, pedigree information and biomaterials (including DNA, plasma, cryopreserved lymphocytes and/or cell lines) from human subjects participating in studies that form the NIDA Genetics Consortium.
The contract includes receiving data along with blood samples or other biospecimens from funded grants and/or contracts supporting research on the genetics of addiction and addiction vulnerability; processing these data and materials to create databases, serum, DNA, RNA and cell lines; distributing all data and materials in the NIDA Human Genetics Initiative to qualified investigators; and maintaining storage of data and biomaterials.
RUCDR has a similar agreement with the National Institute of Mental Health to support the NIMH Center for Collaborative Genomics Research on Mental Disorders, which provides services to NIMH-funded scientists studying mental disorders. A $44.5 million, five-year cooperative agreement renewal was awarded in 2013.
About RUCDR Infinite Biologics RUCDR Infinite Biologics offers a complete and integrated selection of biological sample processing, analysis and biorepository services to government agencies, academic institutions, foundations and biotechnology and pharmaceutical companies within the global scientific community. RUCDR Infinite Biologics provides DNA, RNA and cell lines with clinical data to hundreds of research laboratories for studies on mental health and developmental disorders, drug and alcohol abuse, diabetes and digestive, liver and kidney diseases. RUCDR completed an $11.8 million expansion and renovation of its facilities last year. Read more at http://www.rucdr.org.
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Rutgers' Human Genetics Institute Wins $19 Million Federal Contract
Atlas shows how genes affect our metabolism
PUBLIC RELEASE DATE:
11-May-2014
Contact: Mark Thomson press.office@sanger.ac.uk 01-223-492-384 Wellcome Trust Sanger Institute
In the most comprehensive exploration of the association between genetic variation and human metabolism, researchers have provided unprecedented insights into how genetic variants influence complex disease and drug response through metabolic pathways.
The team has linked 145 genetic regions with more than 400 molecules involved in human metabolism in human blood. This atlas of genetic associations with metabolism provides many new opportunities to understand the molecular pathways underlying associations with common, complex diseases.
Metabolic molecules, known as metabolites, include a wide range of different molecules such as vitamins, lipids, carbohydrates and nucleotides. They make up parts of, or are the products of, all biological pathways. This new compendium of associations between genetic regions and metabolite levels provides a powerful tool to identify genes that could be used in drug and diagnostic tests for a wide range of metabolic disorders.
"The sheer wealth of biological information we have uncovered is extraordinary," says Dr Nicole Soranzo, senior author from the Wellcome Trust Sanger Institute. "It's exciting to think that researchers can now take this freely available information forward to better understand the molecular underpinnings of a vast range of metabolic associations."
The team measured the levels of a large number of metabolites, both those already known and many as yet uncharacterised, from many different metabolic pathways.
They found 90 new genetic associations, trebling the figure of known genetic associations with metabolites. In many of the cases where metabolites were known, the team were able to link the molecule to gene function. They mapped genes to their likely substrates or products and linked these to a number of conditions, including hypertension, cardiovascular disease and diabetes.
They further found that these genetic regions map preferentially to genes that are currently targeted in drug-development programmes. This provides new opportunities to assess genetic influences on drug response, and to assess the potential for existing drugs to treat a wide range of diseases.
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What if race is more than a social construct?
Nicholas Wade, a leading science writer whose specialty is human evolution, likes to ask interesting questions. Here are some examples:
Why has the West been the most exploratory and innovative civilization in the world for the past 500 years?
Why are Jews of European descent so massively overrepresented among the top achievers in the arts and sciences?
Why is the Chinese diaspora successful all around the world?
Why is it so difficult to modernize tribal societies?
Why has economic development been so slow in Africa?
Contemporary thinkers have offered lots of provocative answers for such questions. Its all about geography. Or institutions. Or rice culture. Or the devastating legacy of colonialism. Or Jewish mothers. Now comes another explanation, one that bravely explores the highly dangerous elephant in the room. Mr. Wade argues that human history has also been profoundly influenced by genetics.
Part of his new book, A Troublesome Inheritance: Genes, Race and Human History, is a summary of new findings in genetic science, and part of it is highly speculative. All of it is bound to be deeply unpopular among social scientists, because it challenges their entrenched belief that race is nothing more than a social construct. The wide diversity in human societies around the world can be explained entirely by culture, they insist. Were all the same under the skin.
Except were not quite. Since the sequencing of the human genome in 2003, evidence of subtle genetic differences has been piling up. As our ancestors branched out of Africa, different groups of people evolved in slightly different ways to adapt to local conditions. The most successful of those people passed on their adaptations to their offspring. The variations in human DNA correspond quite precisely to what we think of as the major races. They are associated not just with differences in hair and skin colour, but also with a range of other physical and (probably) behavioural traits. Another astonishing fact is that 14 per cent of the human genome has been under natural selection strong enough to be detectable. The evidence also shows that evolution can proceed remarkably quickly, and has never stopped. (The Tibetan adaptation to high altitudes is just 3,000 years old.) Human evolution has been recent, copious and regional, Mr. Wade says in his book.
Mr. Wade knows he may be stepping on a land mine. In the not so distant past, ideas about racial difference have been used to justify everything from slavery to extermination. A lot of people think its safer to deny such differences exist. The subject is so taboo that any discussion of racial differences is widely considered tantamount to racism itself. Geographer Jared Diamond (author of Guns, Germs and Steel, which contends that geography explains everything) has said that only people capable of thinking the Earth is flat believe in the existence of human races. So that makes Mr. Wade, who has written for The New York Times for 20 years, either foolhardy or fearless. The idea that human populations are genetically different from one another has been actively ignored by academics and policy makers for fear that such inquiry might promote racism, he writes.
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Human Genetics Project – Video
Human Genetics Project
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What Is Human Genetics: How Important Is It To Science Today?
Applications Of Human Genetics In Science
Human genetics provides critical understanding of the occurrence, diagnosis and treatment of various genetic disorders and diseases which have a genetic basis. It is an integral part of several overlapping scientific fields that include: traditional genetics, cytogenetics, molecular and biochemical genetics, bioinformatics, genomics, population genetics, research and pharmaceuticals, clinical genetics and genetic counseling.
Human genetics has contributed to vast developments and advances in scientific fields like human genomics through successful projects like the human genome project. This particular field emphasizes the application of genomic approaches to provide better understanding of human genetic diseases, the process of new drug discovery and studies of variable drug reaction due to different genetic make-up in persons.
A better understanding of human genetics has also resulted in cooperative research between academicians and practitioners in the clinical and pharmaceutical industries as both have common aims of maximizing the potential scientific benefits of the Human Genome Project. The study has lead to advances in the science of pharmacogenomics, expression profiling, proteomics, use of bioinformatics and animal models in testing new drugs and therapeutic treatments.
Human genetics has provided details about how genes are involved in genetic disorders. This in turn has lead to advances in the development of improved therapeutic treatments and appropriate management of these genetic disorders as well as providing invaluable genetic counseling to affected families on the risk factors. Since there is better understanding of how genetics is involved in disease, it is possible to now carry of genetic testing for newborn infants. Early diagnosis helps in better treatment and management of genetic disorders.
The development of new and advanced techniques like gene cloning has provided the use of gene therapy in clinical practice. Cloning has made it possible to replace any defective gene with in vitro, corrected copies to treat genetic disorders. Human genetics is both a basic as well as applied science. As a basic science, human genetics explores the results obtained in experimental data on laws of genetic transmission and how these affect the development and function of human beings.
Human genetics is also a practical, applied science since it not only evaluates the theoretical implications of experimental data, it also uses this data to equate the value for practical applications in human welfare. This is done in scientific fields like bioinformatics which has helped to sort the vast amounts of genetic data obtained in the human genome project into useful information on the various genes, their functions and relationships to disease.
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What Is Human Genetics: How Important Is It To Science Today?
Statistical test increases power of genetic studies of complex disease
PUBLIC RELEASE DATE:
7-May-2014
Contact: Tracey DePellegrin Connelly tracey.depellegrin@thegsajournals.org 412-760-5391 Genetics Society of America
BETHESDA, MD May 7, 2014 The power of genome-wide association studies (GWAS) to detect genetic influences on human disease can be substantially increased using a statistical testing framework reported in the May issue of the journal GENETICS.
Despite the proliferation of GWAS, the associations found so far have largely failed to account for the known effects of genes on complex disease the problem of "missing heritability." Standard approaches also struggle to find combinations of multiple genes that affect disease risk in complex ways (known as genetic interactions).
The new framework enhances the ability to detect genetic associations and interactions by taking advantage of data from other genomic studies of the same population. Such information is increasingly abundant for many human populations.
The authors demonstrated that their method improves performance over standard approaches. They also re-examined real GWAS data to find promising new candidates for genetic interactions that affect bipolar disorder, coronary artery disease, Crohn's disease, and rheumatoid arthritis.
"We think practically everyone who's ever done a case-control GWAS could benefit from reanalyzing their data in this way," said author Saharon Rosset, associate professor of statistics at Tel Aviv University.
"This paper offers a significant advance in mapping genes involved in disease. The approach makes use of available data to substantially improve the ability to identify genetic components of disease," said Mark Johnston, Editor-in-Chief of the journal GENETICS.
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Statistical test increases power of genetic studies of complex disease
Dogs pick up directions from human voices
When every call of "Spot, come!" sends your dog running in the opposite direction, it's easy to be cynical about how well canines listen. But a new study shows dogs and even puppies are capable of understanding subtle and indirect cues in human voices, a finding with implications for how dogs came to be deeply attuned to human behavior.
The study found that dogs of all shapes and sizes could home in on a treat based entirely on the direction in which a hidden human was speaking. Human babies can do the same, but our clever cousins the chimpanzees can't, according to a 2012 study.
"The message of this study is not that chimps are stupid and dogs are smart," says lead study author Federico Rossano of Germany's Max Planck Institute for Evolutionary Anthropology. "What it tells us is that dogs pay special attention to communicative signals from humans. ? That's a sign of how connected we are."
The new findings are "fascinating," says Evan MacLean of Duke University's Canine Cognition Center but also "surprising ? because it's a very subtle cue. When I was reading the paper, I was wondering, 'Gosh, can I do this?' " Scientists have long known that dogs are extraordinarily sensitive to visually based social cues from humans, but this is the first evidence they're sensitive to auditory cues, MacLean says.
Rossano and his colleagues had two criteria for their experimental subjects: They had to be comfortable being left with strangers, and they had to be food-motivated. Dogs ranging from Jack Russell terriers to German shepherds watched as an experimenter held up a piece of kibble and said, "Pay attention!" The experimenter ducked behind a barrier, surreptitiously placed the food in one of two black boxes and moved the boxes so the dog could see them.
Then came the crucial test. The hidden experimenter sat close to the empty box but faced the box holding the food and called, "Oh look, look there, this is great!" Instead of heading for the box close to the source of the voice, the dogs trotted over to the food-laden box the experimenter was speaking toward. So the animals seemed to understand that the human was talking about one of the boxes, rather than summoning the dog to the food, and the dogs interpreted the direction of speech to figure out the location of the box with the treat.
Adult dogs did well at this task, but puppies only 8 to 14 weeks old did even better ?? if they had spent plenty of time with people. Puppies that had lived mostly with their litter mates, on the other hand, flubbed the test. These results show that dogs need some kind of learning ?? perhaps in the form of socialization with people - to pick up the clues embedded in a human voice, Rossano says. The ability of such young dogs to do so well suggests dogs have a genetic predisposition to focus on humans and the signals they convey, the researchers say in this week's issue of the Proceedings of the Royal Society B: Biological Sciences.
"In the debate that says, 'It's all about socialization' or 'It's all about genetics,' the answer, as always, is somewhere in the middle," Rossano says.
The results support the idea that socialization is key, agrees cognitive psychologist Monique Udell of Oregon State University. But she says she doesn't think the study helps confirm that dogs are genetically tuned to follow every twitch of the human face, every syllable of human speech. Perhaps dogs are simply superior at reading communicative cues of all kinds, not just those of humans, Udell says.
It's possible that the dogs just made a beeline for the box where the sound was loudest, says dm Miklsi, head of the Family Dog Project at Hungary's Etvs Lornd University. Rossano responds that from the dogs' vantage point, the volume of sound barely differed from one end of the barrier to the other, and it's unlikely the dogs would immediately learn to associate a louder sound with food. He says he thinks the canines use other clues encoded in the sound to figure out where the speaker directs her words. That orientation acts like a finger pointing to the food.
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Exploring genetics behind Alzheimer's resiliency
Autopsies have revealed that some individuals develop the cellular changes indicative of Alzheimer's disease without ever showing clinical symptoms in their lifetime.
Vanderbilt University Medical Center memory researchers have discovered a potential genetic variant in these asymptomatic individuals that may make brains more resilient against Alzheimer's.
"Most Alzheimer's research is searching for genes that predict the disease, but we're taking a different approach. We're looking for genes that predict who among those with Alzheimer's pathology will actually show clinical symptoms of the disease," said principal investigator Timothy Hohman, Ph.D., a post-doctoral research fellow in the Center for Human Genetics Research and the Vanderbilt Memory and Alzheimer's Center.
The article, "Genetic modification of the relationship between phosphorylated tau and neurodegeneration," was published online recently in the journal Alzheimer's and Dementia.
The researchers used a marker of Alzheimer's disease found in cerebrospinal fluid called phosphorylated tau. In brain cells, tau is a protein that stabilizes the highways of cellular transport in neurons. In Alzheimer's disease tau forms "tangles" that disrupt cellular messages.
Analyzing a sample of 700 subjects from the Alzheimer's Disease Neuroimaging Initiative, Hohman and colleagues looked for genetic variants that modify the relationship between phosphorylated tau and lateral ventricle dilation -- a measure of disease progression visible with magnetic resonance imaging (MRI). One genetic mutation (rs4728029) was found to relate to both ventricle dilation and cognition and is a marker of neuroinflammation.
"This gene marker appears to be related to an inflammatory response in the presence of phosphorylated tau," Hohman said.
"It appears that certain individuals with a genetic predisposition toward a 'bad' neuroinflammatory response have neurodegeneration. But those with a genetic predisposition toward no inflammatory response, or a reduced one, are able to endure the pathology without marked neurodegeneration."
Hohman hopes to expand the study to include a larger sample and investigate gene and protein expression using data from a large autopsy study of Alzheimer's disease.
"The work highlights the possible mechanism behind asymptomatic Alzheimer's disease, and with that mechanism we may be able to approach intervention from a new perspective. Future interventions may be able to activate these innate response systems that protect against developing Alzheimer's symptoms," Hohman said.
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A new syndrome caused by mutations in AHDC1
PUBLIC RELEASE DATE:
1-May-2014
Contact: Glenna Picton picton@bcm.edu 713-798-7973 Baylor College of Medicine
HOUSTON (May 1, 2014) -- A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.
The study published online today in the American Journal of Human Genetics.
The Baylor researchers first studied a patient from Australia with these symptoms who had been seen by many doctors and had multiple diagnostic tests, without any diagnosis.
Although there was no family history of the disease, the researchers performed DNA sequence analysis on the patient and her parents to determine if there was an underlying genetic cause for her symptoms.
The results showed damaging mutations had newly arisen in five genes in the patient when compared with the parents DNA sequence.
One gene was a candidate for causing the disease because similar mutations were never seen in healthy control individuals.
"This led us to ask if there were any other undiagnosed disease cases that had similar mutations in this gene," said Dr. Fan Xia, assistant professor of molecular and human genetics and in the Whole Genome Laboratory at Baylor and the first author on the report.
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Panel Discussion "DNA" – Video
Panel Discussion "DNA"
Our resident experts, Dr Riaad Moosa, Dr Darren Green, Naazneen Khan, sit down to discuss some of the applications of DNA research and development for health and wellness. Joining the panel...
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Identification of genetic mutations involved in human blood diseases
PUBLIC RELEASE DATE:
28-Apr-2014
Contact: Anne-Julie Ouellet anne-julie.ouellet@icm-mhi.org 514-376-3330 x2700 Montreal Heart Institute
A study published today in Nature Genetics has revealed mutations that could have a major impact on the future diagnosis and treatment of many human diseases. Through an international collaboration, researchers at the Montreal Heart Institute (MHI) were able to identify a dozen mutations in the human genome that are involved in significant changes in complete blood counts and that explain the onset of sometimes severe biological disorders.
The number of red and white blood cells and platelets in the blood is an important clinical marker, as it helps doctors detect many hematological diseases and other diseases. Doctors can also monitor this marker to determine the effectiveness of therapy for certain pathologies.
"Complete blood counts are a complex human trait, as the number of cells in the blood is controlled by our environment and the combined expression of many genes in our DNA," explained Dr. Guillaume Lettre, a study co-author, an MHI researcher, and an Associate Professor at the Faculty of Medicine at Universit de Montral.
In collaboration with their colleagues at the University of Washington in Seattle and the University of Greifswald in Germany, these MHI researchers analyzed the DNA of 6,796 people who donated specimens to the MHI Biobank by looking specifically at segments of DNA directly involved in protein function in the body. They specifically identified a significant mutation in the gene that encodes erythropoietin, a hormone that controls the production of red blood cells. "Subjects who carry this mutation in their DNA have reduced hemoglobin levels and a 70% greater chance of developing anemia," explained Dr. Lettre. The scientists also identified a mutation in the JAK2 gene, which is responsible for a 50% increase in platelet counts and, in certain cases, for the onset of bone marrow diseases that can lead to leukemia. Dr. Jean-Claude Tardif, Director of the MHI Research Centre, Full Professor at the Faculty of Medicine at Universit de Montral, and a study co-author, added that "after reviewing pre-existing clinical data from the MHI Biobank, we observed that these donors also had a higher risk of having a stroke during their lifetime."
Dr. Lettre believes that these findings are very encouraging, as they suggest that the experimental approach used in the study can be applied to other human diseases. "Thanks to the existing genetic data and wealth of other clinical information available from the MHI Biobank, we will be able to identify other rare genetic variations that may impact the risk of cardiovascular disease and open the door to the development of new therapies."
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About the MHI Biobank: https://www.icm-mhi.org/en/research/infrastructures-services/mhis-hospital-biobank
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Identification of genetic mutations involved in human blood diseases
Stem Cell Therapy | Genetics and Rheumatoid Arthritis – Video
Stem Cell Therapy | Genetics and Rheumatoid Arthritis
What do genes have to do with arthritis? No... not those kinds of genes... these kinds of jeans. Genetics can explain why infections can trigger rheumatoid arthritis Appearing in Science Codex...
By: Nathan Wei
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Stem Cell Therapy | Genetics and Rheumatoid Arthritis - Video