Research at NHGRI
The Division of Intramural Research conducts a broad program of laboratory and clinical research.
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NIH researchers use a new cell model of a rare disease to develop therapeutic compounds

Read moreNIH researchers reporting in the June 11, 2014, issue of Science Translational Medicine say they've cleared a major obstacle to testing potential drug therapies for a genetic condition called Gaucher disease. After creating a successful cell model that exhibits the signature traits of the disease, they've now tested a drug compound that has successfully corrected Gaucher's malfunctioning cells.  Read more

A Jump-Start to Genomic Medicine

Read more A new, two-year NIH initiative called the Clinical Center Genomics Opportunity (CCGO) will build an infrastructure for clinical genomic sequencing so clinical researchers can use genomic data for clinical research. Read more

 Read the CCGO Information Page

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NHGRI Intramural Research Award

Learn about the 2013 awardees for the NHGRI Intramural Research Award New


NIH scientists help identify genetic variants linked to glaucoma

August 31 Advance Online Publication of Nature Members of the Statistical Genetics Section of the National Human Genome Research Institute's Division of Intramural Research are co-authors of a study in the Aug. 31, 2014, advance online edition of Nature Genetics. In "Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma," researchers combined genetic data from 18 populations, including people of Asian and European descent, and identify ABCA1 as a risk gene for both high inner eye pressure and glaucoma. Glaucoma is a group of eye disorders that cause progressive damage to the optic nerve and can lead to permanent blindness. They also identified a link between two other genetic variants to both of these conditions.
Read the study: Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

NHGRI-led study uses innovative method to find a gene associated with coronary artery calcification

July 3 issue of CellResearchers have discovered a new genetic association and innovative way of identifying genes involved in coronary artery calcification, a leading cause of heart disease and death. The team led by the National Human Genome Research Institute used a combination of RNA, DNA and protein analysis to identify the gene, TREML4. They learned about its biological role in the condition and demonstrated an alternative approach to large genome-wide association studies for discovering disease-associated genes. Their paper, "Integrative DNA, RNA, and Protein Evidence Connects TREML4 to Coronary Artery Calcification," appeared in the July 3, 2014, online issue of the American Journal of Human Genetics.
Read the study: Integrative DNA, RNA, and Protein Evidence Connects TREML4 to Coronary Artery Calcification

Last Updated: September 1, 2014