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 researchersreporting 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


Human leukocyte antigen protein implicated as contributing to Behçet disease

Dan KastnerA human leukocyte antigen protein, HLA-B*51, has been implicated as contributing to Behçet disease, a painful inflammatory condition found predominantly in people with ancestry from along Eurasia's Silk Road. A team led by Daniel Kastner, M.D., Ph.D., researchers at the National Human Genome Research Institute and the National Institute of Arthritis and Musculoskeletal and Skin Diseases reported in the May 12, 2014, early online issue of the Proceedings of the National Academy of Sciences that seven amino acid positions of the immune system's HLA-B and HLA-A proteins independently influence the risk of developing Behçet disease. Read the study: Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity

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 18, 2014