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Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… the CMGs will define the state-of-the-art study designs and methods to find the variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is of … genome-wide sequencing technology and other complementary genomic approaches to discover the genetic basis that …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … disorder. It is difficult to overstate the relief that genomic testing has brought to many of these patients and … a large number of patient groups have formed after the genomic cause has been identified for a specific rare …
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.
… Institutes of Health 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. … (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … by computers - with no human interpretation or bias - and takes about three hours per exome to analyze an …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in … Advancing Knowledge of Human Genomic Variation A special issue of Human Mutation , … develop standard processes for reviewing data about gene variants and their connections to health and disease. These …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… helped define NHGRI's niche: developing general paradigms and approaches, and creating data resources and tools. The … GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full … using a range of study designs and presumed underlying genomic architectures. Secondarily, the CCDGs will develop …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk … disease. APOL1 is important for the immune system and variants of the gene are linked to increased risk of chronic … Research Network. Previous research established that genomic variants in APOL1 increase the risk of developing …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… this reorganization, the Center for Research on Genomics and Global Health (CRGGH) is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … appreciated with the increased interaction between CRGGH and other MCIDGB groups, including those of Dan Kastner , …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also provides insights into more common disorders.​ … members - Anastasia L. Wise, Ph.D., Shawn Burgess, Ph.D., and Brian P. Brooks, M.D., Ph.D.- will provide research …