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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
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 … and associate professor of pathology at Brigham and Women's Hospital and Harvard Medical School, both in Boston. While … other investigators with the National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program …
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 … as "a goldmine of good health information from the world's largest medical library." Evaluating Health Information … PubMed www.ncbi.nlm.nih.gov/pubmed/ PubMed is NIH's searchable database of published scientific and medical …
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 …
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 … a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer Research in 1981 and served … He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane …
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 …
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 … truly fortunate to have him within our ranks." Dr. Gahl's signature achievement was the founding of the National … involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or …
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 … because its development depends strongly on a person’s genetic predisposition, combined with their environment and … not have complete or accurate knowledge of their relative’s diagnoses, age at diagnosis, lifestyle and cause of death. …
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 … Polygenic risk scores provide an estimate of an individual’s risk for specific diseases, based on their DNA changes … to determine risk for such diseases.” Since the field’s inception, the genomics community has performed over 6,000 …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… fever (FMF), and later stayed in the same group as a s taff scientist. In 2010, she moved with Dr. Kastner to the … a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her scientific … mutations in TNFAIP3 in patients with early-onset Behçet's-like disease, denoted haploinsufficiency of A20 (HA20), and …
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 …