NHGRI Press Releases

Study Conclusively Ties Rare Disease Gene to Parkinson's

Wed, 21 Oct 2009 12:00:00 EST

An international team led by a National Institutes of Health researcher has found that carriers of a rare, genetic condition called Gaucher disease face a risk of developing Parkinson's disease more than five times greater than the general public. The findings were published Oct. 21 in the New England Journal of Medicine.

NHGRI Launches Improved Online Talking Glossary of Genetic Terms

Tue, 20 Oct 2009 12:00:00 EST

The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, launches the next generation of its online Talking Glossary of Genetic Terms. The glossary contains several new features, including more than 100 colorful illustrations and more than two dozen 3-D animations that allow the user to dive in and see genetic concepts in action at the cellular level.

NIH Funds Four Centers of Excellence in Genomic Science

Mon, 28 Sep 2009 12:00:00 EST

The National Human Genome Research Institute and National Institute of Mental Health, both part of the National Institutes of Health, announce grants expected to total approximately $45 million to establish new Centers of Excellence in Genomic Science at the Medical College of Wisconsin and University of North Carolina, Chapel Hill as well as to continue support of existing centers at Johns Hopkins University and the University of Southern California.

NIH Study Reveals New Genetic Culprit in Deadly Skin Cancer

Sun, 30 Aug 2009 12:00:00 EST

Drawing on the power of DNA sequencing, National Institutes of Health researchers identify a new group of genetic mutations involved in the deadliest form of skin cancer, melanoma. This discovery is particularly encouraging because some of the mutations, which were found in nearly one-fifth of melanoma cases, reside in a gene already targeted by a drug approved for certain types of breast cancer.

Variants in Three Genes Account for Most Dog Coat Differences

Thu, 27 Aug 2009 12:00:00 EST

Variants in just three genes acting in different combinations account for the wide range of coat textures seen in dogs — from the poodle's tight curls to the beagle's stick-straight fur. A team led by researchers from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, reports these findings in the advance online issue of the journal Science.

NIH-Funded Researchers Sequence Exomes of 12 People

Sun, 16 Aug 2009 12:00:00 EST

In a pioneering effort that generated massive amounts of DNA sequence data from 12 people, a team supported by the National Institutes of Health (NIH) demonstrates the feasibility and value of a new strategy for identifying relatively rare genetic variants that may cause or contribute to disease. The proof-of-concept findings were published online in the journal Nature.

Researchers Uncover Genetic Variants Linked to Blood Pressure In African-Americans

Thu, 16 Jul 2009 12:00:00 EST

A team led by researchers from the National Institutes of Health today reports the discovery of five genetic variants related to blood pressure in African-Americans, findings that may provide new clues to treating and preventing hypertension. The effort marks the first time that a relatively new research approach, called a genome-wide association study, has focused on blood pressure and hypertension in an African-American population.

Researchers Discover Evolutionary Event Underlying the Origin of Dachshunds, Other Dogs With Short Legs

Thu, 16 Jul 2009 12:00:00 EST

A single evolutionary event appears to explain the short, curved legs that characterize all of today's dachshunds, corgis, basset hounds and at least 16 other breeds of dogs, a team led by the National Human Genome Research Institute, part of the National Institutes of Health, reports. In addition to what it reveals about short-legged dogs, the unexpected discovery provides new clues about how physical differences may arise within species and suggests new approaches to understanding a form of human dwarfism.

NIH Expands Human Microbiome Project; Funds Sequencing Centers and Disease Projects

Tue, 23 Jun 2009 12:00:00 EST

The Human Microbiome Project has awarded more than $42 million to expand its exploration of how the trillions of microscopic organisms that live in or on our bodies affect our health, the National Institutes of Health (NIH) announces.

Study Finds Unexpected Bacterial Diversity on Human Skin

Thu, 28 May 2009 12:00:00 EST

National Institutes of Health researchers have set out to explore the skin's microbiome, which is all of the DNA, or genomes, of all of the microbes that inhabit human skin. Their initial analysis, published in the journal Science, reveals that our skin is home to a much wider array of bacteria than previously thought.

NIH Announces New Program to Develop Therapeutics for Rare and Neglected Diseases

Wed, 20 May 2009 12:00:00 EST

The National Institutes of Health launches the first integrated, drug development pipeline to produce new treatments for rare and neglected diseases. The $24 million program jumpstarts a trans-NIH initiative called the Therapeutics for Rare and Neglected Diseases program, or TRND.

Researchers Uncover Genetic Clues to Blood Pressure

Sun, 10 May 2009 12:00:00 EST

An international research team identifies a number of unsuspected genetic variants associated with systolic blood pressure (SBP), diastolic blood pressure (DBP), and hypertension (high blood pressure), suggesting potential avenues of investigation for the prevention or treatment of hypertension. The research was funded in part by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health and by several other NIH institutes and centers.

USDA and NIH Funded International Science Consortium Publishes Analysis of Domestic Cattle Genome Sequence

Thu, 23 Apr 2009 12:00:00 EST

The U.S. Department of Agriculture and the National Institutes of Health announce that an international consortium of researchers has published the genome of domestic cattle, the first livestock mammal to have its genetic blueprint sequenced and analyzed. The landmark research will bolster efforts to produce better beef and dairy products and lead to a better understanding of the human genome.

Free Online Toolkit Provides Standard Measures for Genome and Population Studies

Mon, 20 Apr 2009 12:00:00 EST

The National Human Genome Research Institute, part of the National Institutes of Health, announces the release of the first version of a free online toolkit aimed at standardizing measurements of research subjects' physical characteristics and environmental exposures. The tools will give researchers more power to compare data from multiple studies, accelerating efforts to understand the complex genetic and environmental factors that cause cancer, heart disease, depression and other common diseases.

Researchers Discover New Genetic Variants Associated with Increased Risk of Stroke

Thu, 16 Apr 2009 12:00:00 EST

Scientists identify a previously unknown connection between two genetic variants and an increased risk of stroke, providing strong evidence for the existence of specific genes that help explain the genetic component of stroke. The research was funded by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health and by several other NIH institutes and centers.

Skin Cancer Study Uncovers New Tumor Suppressor Gene

Sun, 29 Mar 2009 12:00:00 EST

National Institutes of Health (NIH) researchers have identified a gene that suppresses tumor growth in melanoma, the deadliest form of skin cancer. The finding is reported in the journal Nature Genetics as part of a systematic genetic analysis of a group of enzymes implicated in skin cancer and many other types of cancer.

Researchers Devise New Way to Explore DNA

Thu, 12 Mar 2009 12:00:00 EST

A team that includes researchers from the National Institutes of Health (NIH) — and from the National Human Genome Research Institute — has found a new way of detecting functional regions in the human genome. The novel approach involves looking at the three-dimensional shape of the genome's DNA and not just reading the sequence of the four-letter alphabet of its DNA bases.

Low Levels of Vitamin B12 May Increase Risk for Neural Tube Defects

Mon, 2 Mar 2009 12:00:00 EST

Children born to women who have low blood levels of vitamin B12 shortly before and after conception may have an increased risk of a neural tube defect, according to an analysis by researchers at the National Institutes of Health, Trinity College Dublin, and the Health Research Board of Ireland. Women with the lowest B12 levels had 5 times the risk of having a child with a neural tube defect compared to women with the highest B12 levels.

Could Genetics Improve Warfarin Dosing?

Wed, 18 Feb 2009 12:00:00 EST

In a large-scale study and an upcoming clinical trial, scientists supported by the National Institutes of Health address one of the trickiest issues in prescribing medicine — how to quickly optimize each patient's dosage of the common blood-thinning drug warfarin. Using information from thousands of genetically and geographically diverse patients, an international team of researchers, funded in part by the National Human Genome Research Institute, has developed a way to use genetic information from patients that could help doctors better determine optimal warfarin doses. The results of the analysis are published in an article titled "Warfarin Dosing Using Clinical and Pharmacogenetic Data" in the Feb. 19 issue of The New England Journal of Medicine.

New Findings Raise Questions About Process Used to Identify Experimental Drug for Rare Genetic Diseases

Mon, 2 Feb 2009 12:00:00 EST

A study by National Institutes of Health (NIH) researchers reveals surprising new insights into the process used to initially identify an experimental drug now being tested in people with cystic fibrosis and muscular dystrophy. Researchers emphasized that the clinical implications of their findings are unclear, but said the results suggest more work may be needed to make sure the screening process to select promising agents was not flawed by its effects on a firefly enzyme used as a marker.