Search Results
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… in only a few people. Most of these variants do not affect disease risk, response to drugs or other traits such as height. How … the genomes of thousands of people with and without a disease or trait are compared to find the chromosomal regions …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … letters in a cell's DNA-may contribute to increased risk or protect against the disease. The NIH awarded grants for using innovative new …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced … of how genomic differences among people influence disease risk and to develop models for future studies of common …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
… variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. … A pathogenic variant is a genomic variant that may … a person’s risk of developing a condition, disorder or disease. In many cases, carrying a pathogenic variant does …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic …
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.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … of California, San Francisco EXposomic Profiling in Airway disease to uNravel Determinants of disease in Asthma (EXPAND-Asthma) Center Disease Study Site** …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. ​ … Branch Chief Charles Rotimi, …
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.
… several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … of patients have clinical features of autoinflammatory disease without a good explanation. Our goal is to discover … Syndrome (MWS) Neonatal Onset Multisystem Inflammatory Disease (NOMID) Undifferentiated autoinflammatory disorders …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … as well as to understand human history and how it informs disease distribution and etiology. Through large genomic …