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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 National Human Genome Research Institute funded the Centers for Mendelian … the CMGs will define the state-of-the-art study designs and methods to find the variants and genes underlying Mendelian disorders. … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and …
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 … approved by the FDA . The ability to read the human genome quickly and cheaply has led to substantial advances in discovering … Matt Might and his family provide one such genome sequencing story. Matt and his wife Cristina knew …
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.
… The National 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. … The National Human Genome Research Institute (NHGRI), part of NIH, today …
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 genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs address a … genomic variation to human health. The National Human Genome Research Institute (NHGRI) established ClinGen in 2013 …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following … The NHGRI Genome Sequencing Program (GSP) has evolved from NIH's … helped define NHGRI's niche: developing general paradigms and approaches, and creating data resources and tools. The … to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full …
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 … on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study …
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 2002 by the National Human Genome Research Institute (NHGRI) and the Division of Rare …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As … 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). …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… National Human Genome Research 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 …