Search Results
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.
… 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 … individuals with known or suspected autoinflammatory diseases and their family members. Unfortunately, we receive …
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
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 …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
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 …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
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 …
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 …
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 …