Search Results
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. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… Adam Felsenfeld, genome sequencing, DNA sequencing, common diseases, rare diseases … Adam Felsenfeld, genome sequencing, DNA sequencing, common diseases, rare diseases … Dr. ​Adam Felsenfeld is a program director in …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
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 …
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 …
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 …
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, …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center … long eluded diagnosis To advance medical knowledge about rare and common diseases  For information, view our …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … role in revealing the genomic basis for an important rare disease," said Eric D. Green, M.D., Ph.D., director of … senior author and staff scientist in NHGRI's Inflammatory Diseases Section. The Israeli researchers, whose study is …