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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
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.
… 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
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. … The funding establishes six centers, collectively … light on the interrelationships of proteins in complex diseases, which is an important step in developing a rational …
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
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.
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network. The national Network combines DNA biorepositories with electronic medical … provided clinical assessments and medical care for adult diseases influenced by genetically influenced conditions to …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and … and families to better understand of how genes influence diseases and develop more effective diagnostics and … Genetic Disease, Genetic Condition, Rare Disease, Undiagnosed Disease, Gene Mutation, Gene Variation, DNA …
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 …
Fact Sheet
Sickle cell disease resources for patients