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NHGRI-Related News
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A listing of news releases from other National Institutes of Health (NIH) institutes and centers, academic and non-profit institutions, and scientists or scientific societies related to NHGRI-funded work.
NHGRI-Related News Archive
2009
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November 24, 2009:
For the First Time, Scientists Discover Causative Gene of a Rare Disorder by Sequencing All Protein-Coding Regions of the Genome
From the University of Washington: For the first time, scientists use a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder. Mendelian disorders, such as cystic fibrosis and sickle cell disease, are the result of one or more mutations in a single gene, typically a gene that makes a protein. All of the regions that code for proteins taken together are called the exome. The study, "Exome sequencing identifies the cause of a mendelian disorder," was led by University of Washington (UW) researchers and published Nov. 13, in Nature Genetics. The research was funded in part by NHGRI.
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November 4, 2009:
Scientists Propose a "Genome Zoo" of 10,000 Vertebrate Species
From the University of California at Santa Cruz: In the most comprehensive study of animal evolution ever attempted, an international consortium of scientists plans to assemble a genomic zoo — a collection of DNA sequences for 10,000 vertebrate species, approximately one for every vertebrate genus. Using a workshop to organize their ideas, the group proposed The 10K Genomes Project in a paper published Nov. 5, 2009 in the Journal of Heredity. Co-authors include NHGRI's Eric Green M.D., Ph.D. and Adam Felsenfeld, Ph.D.
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October 29, 2009:
Trinity College Researchers in collaboration with the US National Institutes of Health Chemical Genomics Center Create New Database of Drug-Metabolising Enzymes
From Trinity College Dublin: In an advance that should help speed drug discovery, researchers from Trinity College Dublin and the National Institutes of Health Chemical Genomics Center (NCGC) have generated the most comprehensive analysis to date of the CYP activity of thousands of drugs and possible drug candidates. Their study is published in the November 2009 issue of Nature Biotechnology.
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October 21, 2009:
Gene Duplication Identified in an Uncommon Form of Bone Cancer
From the National Cancer Institute:
Scientists discover that a familial form of a rare bone cancer called chordoma is explained not by typical types of changes or mutations in the sequence of DNA in a gene, but rather by the presence of a second copy of an entire gene. The findings appeared online Oct. 4, 2009, in Nature Genetics and was done by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, and their colleagues. NHGRI researcher David Ng co-authored the study.
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October 20, 2009:
Scientists Decipher the 3-D Structure of the Human Genome
From Harvard University: Scientists decipher the three-dimensional structure of the human genome, paving the way for new insights into genomic function and expanding our understanding of how cellular DNA folds at scales that dwarf the double helix. A paper, featured this week on the cover of the journal Science, they describe a new technology called Hi-C and apply it to answer the thorny question of how each of our cells stows some three billion base pairs of DNA while maintaining access to functionally crucial segments. NHGRI was a supporter of the research.
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October 14, 2009:
NIH Awards New Grants to Build Capacity in Informatics in Global Health
From the National Insitutes of Health: The Fogarty International Center, part of the National Institutes of Health, announces it will award more than $9.23 million to eight global health informatics programs over the next five years. Fogarty's Informatics Training for Global Health program is intended to increase informatics expertise in low- and middle-income countries by training scientists to design information systems and apply computer-supported management and analysis to biomedical research. NHGRI particpated as an NIH funding partner.
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October 13, 2009:
Scientists Use Mathematical Modeling to Correctly Predict Previously Unknown Biological Mechanism of Regulation
From The University of Texas at Austin: A team of scientists, led by a biomedical engineer at The University of Texas at Austin, demonstrate — for the first time — that mathematical models created from data obtained by a recently developed technology called DNA microarrays, can be used to correctly predict previously unknown cellular mechanisms. This brings biologists a step closer to one day being able to understand and control the inner workings of the cell as readily as NASA engineers plot the trajectories of spacecraft today. NHGRI helped fund the research.
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September 29, 2009:
Paul Marks Prize Recognizes 3 Young Cancer Researchers
From Memorial Sloan-Kettering Cancer Center: Three young investigators who have taken significant steps toward advancing the understanding of cancer receive the 2009 Paul Marks Prize for Cancer Research, a prize awarded biennially since 2001 to scientists under the age of forty-six by Memorial Sloan-Kettering Cancer Center. One of the awardees is also a leader in the Cancer Genome Atlas project, which is co-administered by the National Cancer Institute and NHGRI.
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September 24, 2009:
Scientists in Major Prostate Cancer Gene Discovery
From the Institute of Cancer Research: Scientists discover nine new sites in the human genome that have variants that can increase a man's risk of developing prostate cancer by three fold. Their findings were published in two papers in Nature Genetics. NHGRI's Cancer Genetics Branch Chief Elaine Ostrander, Ph.D., and researchers at her lab were co-authors on the study.
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September 18, 2009:
President Honors Nation's Top Scientists and Innovators
From the White House: President Obama names nine eminent researchers as recipients of the National Medal of Science, and four inventors and one company as recipients of the National Medal of Technology and Innovation, the highest honors bestowed by the United States government on scientists, engineers and inventors. Dr. Francis Collins, former director of NHGRI and the current director of the National Institutes of Health, is among the nine researchers honored.
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September 7, 2009:
Scientists Identify Two Gene Variants Associated with Alzheimer's Risk
From the National Institutes of Health: In the largest genome-wide association study (GWAS) reported to date involving Alzheimer's disease, scientists identify two new possible genetic risk factors for late-onset Alzheimer's, the most common form of the disease. The study,which pooled DNA samples from a number of European and U.S. groups, not only associated variations in the sequence of the CLU and PICALM genes with increased risk, but also found another 13 gene variants that merit further investigation, according to findings presented in the September 6, 2009, online issue of Nature Genetics. NHGRI was among several institutions that provided support for the collection of samples.
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August 25, 2009:
CSHL Scientists Develop New Method to Detect Copy Number Variants Using DNA Sequencing Technologies
From Cold Spring Harbor Laboratory: A research team led by Associate Professor Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL) develops a sensitive and accurate way of identifying gene copy number variations (CNVs). The method, which is described in a paper published online ahead of print in Genome Research, uses new DNA sequencing technologies to look for regions of the genome that vary in copy number between individuals in the population. The research was funded by NHGRI.
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August 11, 2009:
New Class of Compounds Discovered for Potential Alzheimer's Disease Drug, Penn Study Finds
From the University of Pennsylvania School of Medicine: A new class of molecules capable of blocking the formation of specific protein clumps that are believed to contribute to the dementia of Alzheimer's disease (AD) patients is discovered by researchers at the University of Pennsylvania School of Medicine and the National Institutes of Health (NIH) Chemical Genomics Center (NCGC). By assaying close to 300,000 compounds, the team has identified drug-like inhibitors of AD tau protein clumping, as reported in the journal Biochemistry. The research was funded in part by NHGRI.
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August 7, 2009:
Secretary Sebelius Announces Senate Confirmation of Dr. Francis Collins as Director of the National Institutes of Health
From the Department of Health and Human Services: On August 7, the U.S. Senate confirmed that former NHGRI Director Francis S. Collins, M.D., Ph.D., will be the director of the National Institutes of Health (NIH). President Barack Obama announced the nomination of Dr. Collins on July 8th. Dr. Collins, a physician and geneticist who led NHGRI from 1993 to 2008, managed the NIH component of the international Human Genome Project.
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August 6, 2009:
Decoding Leukemia Patient Genome Leads Scientists to Mutations in Other Patients
From Washington University in St. Louis: Decoding the complete DNA of cancer patients is giving scientists at Washington University School of Medicine in St. Louis a clearer picture of the complexity of the disease, allowing them to see intriguing and unexpected genetic relationships among patients. The research - funded in part by NHGRI - is reported online in the August 5 New England Journal of Medicine.
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August 5, 2009:
African Village Dogs Are Genetically Much More Diverse Than Modern Breeds, Study Finds
From Cornell University: African village dogs are not a mixture of modern breeds but have directly descended from an ancestral pool of indigenous dogs, according to a Cornell-led genetic analysis of hundreds of semi-feral village dogs. Co-authors of the study, published online Aug. 3 in the Proceedings of the National Academy of Sciences, included Elaine Ostrander, Ph.D., and Heidi Parker, Ph.D., both geneticists at NHGRI.
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July 21, 2009:
Linc RNAs Serve as Genetic Air-Traffic Controllers
From Beth Israel Deaconess Medical Center: A scientific team from Beth Israel Deaconess Medical Center and the Broad Institute have identified a class of RNA genes known as large intervening non-coding RNAs or "lincRNAs," a discovery that has pushed the field forward in understanding the roles of these molecules in many biological processes, including stem cell pluripotency, cell cycle regulation, and the innate immune response. The research — published in the July 14th issue of the Proceedings of the National Academy of Sciences — was funded in part by the National Human Genome Research Institute.
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July 16, 2009:
Disclosing Genetic Risk for Alzheimer's Disease Does Not Cause Psychological Distress
From Boston University School of Medicine:
Researchers from Boston University School of Medicine show that disclosing genetic risk information to adult children of patients with Alzheimer's disease who request this information does not result in significant short-term psychological distress. The report from the REVEAL Study appears in the July 16 issue of the New England Journal of Medicine. Funding for the study was provided by the Ethical, Legal and Social Implications Branch of the National Human Genome Research Institute.
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July 15, 2009:
Stealthy Gene Network Makes Brain Tumors Flourish
From Northwestern University: Glioblastoma, the most aggressive form of brain cancer, has foiled researchers' decades-long efforts to thwart its explosive growth in the brain. But scientists from Northwestern University Feinberg School of Medicine, using data from the The Cancer Genome Atlas funded by NHGRI and NCI,
have now discovered the formidable tumor's soft underbelly. They have identified a network of 31 mutated genes that stealthily work together to create the perfect molecular landscape to allow the tumor to flourish and mushroom to the size of an apple in just a few months.
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June 30, 2009:
Possible Benefit from Online Genetic Testing in Lung Cancer
From the American Association for Cancer Research: As scientists continue to decode the human genome and the information becomes publicly available, private companies that offer online genetic testing are multiplying. Scientists at the National Institutes of Health were concerned that perhaps these tests posed a risk.
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June 5, 2009:
Buffalo to Host Major International Conference on Biomedical Ontology in July
From the University of Buffalo: How medical personnel and their digital systems talk to one another in a meaningful way is important to the health of the patients about whom they "converse." A vast array of philosophers, biomedical researchers and informatics scientists will address this problem July 24-26 at The International Conference on Biomedical Ontology, hosted by the University of Buffalo. The conference is largely funded by the National Human Genome Research Institute.
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June 4, 2009:
Scientists Discover New Genetic Immune Disorder in Children
From the National Institutes of Health: An international team of researchers, including NHGRI's Marjan Huizing, Ph.D., report the discovery of a new autoinflammatory syndrome, a rare genetic condition that affects children around the time of birth. The findings appear in the June 4, 2009 issue of the New England Journal of Medicine.
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May 27, 2009:
Meet the Complete Mouse — Whole Mouse Genome Sequence Published
From Public Library of Science (PLoS) Biology: Are you a man or a mouse? A new paper, published in this week's issue of PLoS Biology, explores exactly what distinguishes our genome from that of the lab mouse. The research was funded by genome sequencing grants from the National Human Genome Research Institute.
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May 18, 2009:
Researchers Gain Fine-Scale, Genome-Wide Insights into Patterns of Human Population Structures Around the World
From the University of Washington: Through sophisticated statistical analyses and advanced computer simulations, researchers are learning more about the genomic patterns of human population structure around the world. Revealing such patterns provides insights into the history of human evolution, the predominant evolutionary forces that shaped local populations, and the relationships among populations. A National Human Genome Research Institute Interdisciplinary Training in Genomic Sciences grant supported this Akey laboratory research.
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May 14, 2009:
Georgetown Research: Mothers Satisfied When They Share Cancer Genetic Test Results with Children
From Georgetown University Medical Center: In a study funded by NHGRI's Ethical, Legal and Social Implications (ELSI) Research Program, researchers at the Lombardi Comprehensive Cancer Center report that mothers who made the decision to disclose their cancer genetic test results with their children were more satisfied than those who decided not to disclose their results. The researchers also report that mothers who disclosed the test results to their children experienced a more open parent-child communication relationship.
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May 11, 2009:
National Institutes of Health Joins in Intel International Science and Engineering Fair Events
From the National Institutes of Health: NIH will for the first time announce Grand Awards in the Medicine and Health category at the Intel International Science and Engineering Fair, the world's premiere science competition for high school students. NHGRI's Carla Easter, Ph.D., is among the experts who will evaluate the projects.
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May 10, 2009:
Eight New Blood Pressure Genes Discovered
From Imperial College of London: Eight common genetic variations that influence blood pressure have been identified in a new study from the Global Blood Pressure Genetics (BPGen) consortium, which includes scientists from NHGRI's Genome Technology Branch.
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April 15, 2009:
Brown Researchers Create Novel Technique to Sequence Human Genome
From Brown University: Physicists at Brown University develop a novel procedure to map a person's genome. They report in the journal Nanotechnology the first experiment to move a DNA chain through a nanopore using magnets. The approach is promising because it allows multiple segments of a DNA strand to be read simultaneously and accurately.
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April 15, 2009:
Researchers Identify Specific Lung Cancer Susceptibility Gene
From the University of Cincinnati: University of Cincinnati cancer cell biologists identify a distinct gene linked to increased lung cancer susceptibility and development. They say this gene-known as RGS17-could result in a genetic predisposition to develop lung cancer for people with a strong family history of the disease. Funding for this research comes from the National Institutes of Health through the Genetic Epidemiology of Lung Cancer Consortium, a group that includes NHGRI Senior Investigator Joan Baily-Wilson, Ph.D.
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April 8, 2009:
Bioinformatics, Zebrafish At Focus During Cancer Control Month
From Medical News Today: April marks National Cancer Control Awareness Month, which focuses on the importance of prevention, treatment and research. Making significant contributions in all of these areas is The Cancer Institute of New Jersey (CINJ), which is one of the nation's 40 Comprehensive Cancer Centers as designated by the National Cancer Institute and the only such center in New Jersey. Along with researchers at the National Human Genome Research Institute, a collaborative effort is underway to study the regulation of gene expression in early leukemia development using zebrafish.
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March 31, 2009:
Cancer Genomics Browser gives cancer researchers a powerful new tool
From University of California, Santa Cruz: A Cancer Genomics Browser developed by researchers at the University of California, Santa Cruz (UCSC), provides a new way to visualize and analyze data from studies aimed at improving cancer treatment by unraveling the complex genetic roots of the disease. In developing this browser, UCSC used data generated by The Cancer Genome Atlas, which is supported by the National Human Genome Research Institute and the National Cancer Institute.
- The following two news releases about the discovery of genetic variants related to sudden cardiac death, pertain to research supported in part by NHGRI.
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March 23, 2009:
Ten genes identified in connection with sudden cardiac death
From University of Michigan:
Irregular heart rhythms are a common cause of sudden cardiac death or SCD, a condition that accounts for 450,000 deaths annually in the United States. Scientists are now closer to understanding what causes SCD and who it may strike, said Gonçalo Abecasis, associate professor of biostatistics at the University of Michigan School of Public Health. Abecasis co-led on an international study, published in the March 22 edition of Nature Genetics, that aimed to identify genetic defects associated with sudden cardiac death.
- March 22, 2009:
Hopkins Scientists ID 10 Genes Associated with a Risk Factor for Sudden Cardiac Death
From Johns Hopkins University School of Medicine: Sudden cardiac death, which annually claims more than a quarter million Americans, has a dearth of discernable symptoms and a lack of detectable molecules circulating in the blood, making the prediction of sudden cardiac death largely dependent on genetic risk factors. Johns Hopkins researchers, in collaboration with an international contingent of researchers, have identified 10 common variants of genes that modify the timing of the contraction of the heart, known as the QT interval. The study, published March 22 in Nature Genetics, provides new insight about the underpinnings of the QT interval which, when prolonged or shortened, predisposes to sudden cardiac death.
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March 19, 2009:
What's driving specific patterns of gene expression among cell types?
From University of California - San Diego:
Providing another tool to help to understand gene regulation on a global scale, a nationwide research team has identified and mapped 55,000 enhancers, short regions of DNA that act to enhance or boost the expression of genes. The map, which was published March 18 in the advance on-line edition of the journal Nature, will help scientists understand how cells control expression of genes specific to their particular cell type. Funding for this research was provided in part by the National Human Genome Research Institute.
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February 25, 2009:
Predicting risk of stroke from one's genetic blueprint
From Children's Hospital Boston: A new statistical model could be used to predict an individual's lifetime risk of stroke, finds a study from the Children's Hospital Informatics Program (CHIP). Using genetic information from 569 hospital patients, the researchers showed that their predictive model could estimate an individual's overall risk of cardioembolic stroke - the most common form of stroke - with 86 percent accuracy. The findings are reported in the March issue of Stroke. The research was supported in part by the National Human Genome Research Institute.
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February 23, 2009:
Landmark DNA Analysis Paper Published in Nature Nanotechnology
From Oxford Nanopore Technologies:
Oxford Nanopore Technologies ("Oxford Nanopore") announces the publication of new research in
Nature Nanotechnology, demonstrating accurate and continuous identification of DNA bases using nanopores. The system can also directly
identify methylated cytosine, important in the study of epigenetics. This research - funded in part by the National Human Genome Research Institute - marks significant progress towards Oxford Nanopore's goal of developing the first label-free, single molecule DNA sequencing technology.
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February 19, 2009:
A New PAGE in the Genetics of Disease
From Rutgers University:
Population Architecture using Genomics and Epidemiology (PAGE) is a four-year project promoting research into how genes and diseases are associated. PAGE investigates how specific genetic variants act to influence the risk of diabetes, obesity, heart disease, autoimmune disorders, cancer and other common diseases. It is funded by the National Human Genome Research Institute and the National Institute of Mental Health, parts of the National Institutes of Health.
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February 5, 2009:
Biologists Solve Mystery of Black Wolves
From the University of California, Los Angeles:
Why do nearly half of North American wolves have black coats while European wolves are overwhelmingly gray or white? The surprising answer, according to teams of biologists - including coauthor Elaine Ostrander, Ph.D. Chief of NHGRI's Cancer Genetics Branch
- and molecular geneticists from Stanford University, UCLA, Sweden, Canada and Italy, is that the black coats are the result of historical matings between black dogs and wild gray wolves. The research, federally funded by the National Science Foundation, appeared Feb. 5 in the online edition of the journal Science and will be published later in the journal's print edition.
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February 1, 2009:
Missing Links of the Transcriptome
From the Broad Institute: Only 5 percent of our DNA is thought to be functional, with the 20,000 or so protein-coding genes accounting for just one-fifth of that and the rest still unknown. Researchers at the Broad Institute of MIT and Harvard and Beth Israel Deaconess Medical Center have now discovered the identity of some of those unknown players using a new technique that looks for unusual signatures in the genome. The research - published Feb. 1 in the advance online issue of the jouranal Nature - was funded in part by NHGRI.
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January 29, 2009:
Genes May Predict Vascular Malformation
From the Medical College of Wisconsin: A pair of studies, led by Medical College of Wisconsin scientists at Children's Research Institute in Milwaukee, may translate into rapid molecular tests to distinguish between hemangiomas and congenital blood or lymph vessel malformations in infants. Hemangiomas are common birthmarks consisting of benign tumors of blood vessels. The studies appear in the January 29, 2009 issue of the journal Blood. Researchers from the Genome Technology Branch of the National Human Genome Research Institute were part of the studies.
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January 13, 2009:
Surgeon General's New Family Health History Tool Is Released, Ready for "21st Century Medicine"
From the Department of Health and Human Services:
The U.S. Department of Health and Human Services releases an updated and improved version of the Surgeon General's Internet-based family health history tool. The new tool makes it easier for consumers to assemble and share family health history information. It can also help practitioners make better use of health history information so they can provide more informed and personalized care for their patients.
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Last Updated: November 24, 2009
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