Research at NHGRI
The Division of Intramural Research conducts a broad program of laboratory and clinical research.
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NIH team discovers genetic disorder causing strokes and vascular inflammation in children

Read moreBethesda, Md., Wed., Feb. 19, 2014 - National Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The team's discovery coincides with findings by an Israeli research group that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel inflammation.  Read more 

Mike Pazin at the TEDMED

Finding the hidden music in your DNA

In a recent TedMed talk, NHGRI's Mike Pazin, Ph.D., compared different parts of the genome to the lights and switches in a skyscraper. Protein-coding genes are like a building's lights: easy to spot and determine function, but they're only 1 percent of the genome. Watch the talk

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Recent Studies and Papers

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

Genetic defect may confer resistance to certain viral infections

New England Journal of Medicine logoIn a study published  in the April 9 New England Journal of Medicine, NIH researchers report that a rare genetic disease that depletes infection-fighting antibodies, may actually protect from severe or recurrent viral infections. Researchers found that HIV and influenza viruses replicate at a much lower rate in the cells of people with congenital disorder of glycosylation type IIb than in healthy donor cells, creating fewer and less-infectious viruses. NHGRI coauthors include Lynne Wolfe, Hugo Vega, Yan Huang, David Adams and Cornelius Boerkoel. The case reported in the study originated in the NIH Undiagnosed Diseases Program. Read the study: Clycosylation, hypogammaglobulinemia and resistance to viral infections


Last Updated: April 10, 2014