Search Results
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… and better understand pathways involved in human genetic diseases and normal development. Model systems, including … understanding genetic contributions to a number of human diseases, particularly those affecting the nervous, immune …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, … the institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and … in the Human Biochemical Genetics Section have studied rare disorders and discovered new diseases, employing the …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Identifier: NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly … T-cells that are characteristic of autoimmune diseases. Some autoinflammatory diseases have been shown to be single-gene disorders of …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the central nervous system (the … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… multiple research teams will use the ADSP data to identify rare genetic variants that protect against, or contribute to, … members with Alzheimer's disease. The goal is to identify rare genetic variants that protect against or cause … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on diseases that are disproportionately distributed by ethnicity … basis, pathophysiology and treatment of human inflammatory diseases. A referral clinic established at the NIH Clinical …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… practices, and standards that can be generalized across diseases and populations. It will also generate a … diverse populations; 2) persons with and without specific diseases; 3) harmonized and standardized phenotypic and …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its …