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


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

NIH scientists use computational systems biology to assess responses to flu vaccination

Nurse and patient. Photo courtesy of CDCIn a new study in the April 10, online issue of Cell, NIH scientists, including NHGRI's Pamela Schwartzberg, M.D., Ph.D., describe an approach to modeling and predicting human immune responses to influenza vaccination based on the state of the immune system before immunization. The findings provide a framework for identifying factors that influence people's immune responses, which potentially may be used to optimize treatment. Read the study: Global analyses of human immune variation reveal baseline predictors of the post-vaccination response

Last Updated: June 24, 2014