NHGRI-Related News

Scientists Propose a "Genome Zoo" of 10,000 Vertebrate Species

Wed, 4 Nov 2009 12:00:00 EST

: 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.

Trinity College Researchers in collaboration with the US National Institutes of Health Chemical Genomics Center Create New Database of Drug-Metabolising Enzymes

Thu, 29 Oct 2009 12:00:00 EST

: 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.

Gene Duplication Identified in an Uncommon Form of Bone Cancer

Wed, 21 Oct 2009 12:00:00 EST

: 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.

Scientists Decipher the 3-D Structure of the Human Genome

Tue, 20 Oct 2009 12:00:00 EST

: 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.

NIH Awards New Grants to Build Capacity in Informatics in Global Health

Wed, 14 Oct 2009 12:00:00 EST

: 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.

Scientists Use Mathematical Modeling to Correctly Predict Previously Unknown Biological Mechanism of Regulation

Tue, 13 Oct 2009 12:00:00 EST

: 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.

Paul Marks Prize Recognizes 3 Young Cancer Researchers

Tue, 29 Sep 2009 12:00:00 EST

: 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.

Scientists in Major Prostate Cancer Gene Discovery

Thu, 24 Sep 2009 12:00:00 EST

: 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.

President Honors Nation's Top Scientists and Innovators

Fri, 18 Sep 2009 12:00:00 EST

: 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.

Scientists Identify Two Gene Variants Associated with Alzheimer's Risk

Mon, 7 Sep 2009 12:00:00 EST

: 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.

CSHL Scientists Develop New Method to Detect Copy Number Variants Using DNA Sequencing Technologies

Tue, 25 Aug 2009 12:00:00 EST

: 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.

New Class of Compounds Discovered for Potential Alzheimer's Disease Drug, Penn Study Finds

Tue, 11 Aug 2009 12:00:00 EST

: 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.

Secretary Sebelius Announces Senate Confirmation of Dr. Francis Collins as Director of the National Institutes of Health

Fri, 7 Aug 2009 12:00:00 EST

: 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.

Decoding Leukemia Patient Genome Leads Scientists to Mutations in Other Patients

Thu, 6 Aug 2009 12:00:00 EST

: 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.

African Village Dogs Are Genetically Much More Diverse Than Modern Breeds, Study Finds

Wed, 5 Aug 2009 12:00:00 EST

: 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.

Linc RNAs Serve as Genetic Air-Traffic Controllers

Tue, 21 Jul 2009 12:00:00 EST

: 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.

Disclosing Genetic Risk for Alzheimer's Disease Does Not Cause Psychological Distress

Thu, 16 Jul 2009 12:00:00 EST

: 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.

Stealthy Gene Network Makes Brain Tumors Flourish

Wed, 15 Jul 2009 12:00:00 EST

: 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.

Possible Benefit from Online Genetic Testing in Lung Cancer

Tue, 30 Jun 2009 12:00:00 EST

: 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.

Buffalo to Host Major International Conference on Biomedical Ontology in July

Fri, 5 Jun 2009 12:00:00 EST

: 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.