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News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate … and associate professor of pathology at Brigham and Women's Hospital and Harvard Medical School, both in Boston. While …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance … and promise to advance our understanding of disease onset and progression,” said Erin Ramos, Ph.D., M.P.H., …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… your medical care. … Information on just about any disease can be obtained from the published scientific … These articles present what is known to date about a disease. Such articles may focus on the cause, diagnosis, … as "a goldmine of good health information from the world's largest medical library." Evaluating Health Information …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic … and how different changes in these genes affect a person's risk of getting a disease. Many genes have more than one …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… evaluations, genomics will play a central role in the UDN's mission." Dr. Green and Story Landis, Ph.D., director of … group. The Undiagnosed Diseases Network spans the U.S. map, with locations for the Coordinating Center at Harvard … 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology … He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane … a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy . Nature Comm, 5:Article …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… of the HHS Career Achievement Award this year. "Bill's many years of contributions to genetics and genomics … involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or … To date, they have discovered 23 new genetic disorders and disease phenotypes. "The UDP has been an extraordinary …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… The researchers used type 2 diabetes mellitus (T2D) as the disease model for their study. An estimated 30 million people … chronic diseases to treat. T2D is known as a complex disease because its development depends strongly on a person’s genetic predisposition, combined with their environment and …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… cholesterol levels, a major risk factor for heart disease. The study, published in the journal Nature , was … understanding of the effects of genomic variation on disease, researchers urge the need to include as many diverse … Polygenic risk scores provide an estimate of an individual’s risk for specific diseases, based on their DNA changes …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… (one from each parent) to cause the disorder. Huntington’s disease is an example of an autosomal dominant genetic …