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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the … diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they … been described or are unrecognized forms of more common diseases. … The new system streamlines the application …
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 …
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 … Adventures in Autoinflammatory Genetics: From Genetically Complex Syndromes to Mendelian Diseases: 1) Systemic Juvenile …
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 …
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.
… understanding of the genetic variants involved in this complex and devastating disease and to the shared goal of … 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.
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 … participants in the FHS, a remarkable result given the complex nature of methionine metabolism and its impact on cerebrovascular risk. In many complex diseases, genomic variants often account for less …