Search Results
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
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
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
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.
… 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 programs, …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
Fact Sheet
Sickle cell disease resources for patients
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… of human cellular responses, the Library of Integrated Network-based Cellular Signatures (LINCS). Discovering such … and aid in the development of new therapies for many diseases. … light on the interrelationships of proteins in complex diseases, which is an important step in developing a rational …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… pediatrician and biochemical geneticist in the NIH Undiagnosed Diseases Program (UDP) and the NHGRI Office of the Clinical … on rare heritable and metabolic disorders. He joined the Undiagnosed Diseases Program at its founding in 2008, became … in persons with clinically diagnosed albinism. Within the Undiagnosed Diseases Program, Dr. Adams’s work focuses on …