Research at NHGRI
The Division of Intramural Research conducts a broad program of laboratory and clinical research.
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Expanding the limits of modern medicine

Dunham, Michelle and three-year-old Lilly Aurelius. Photo used with permission, by Anne Staveley In recognition of Rare Disease Day on February 28th, read a story of one patient's medical odyssey. Dunham Aurelius became patient 37 in the NIH Undiagnosed Diseases Program. The NIH Common Fund is currently implementing an initiative to expand the work of diagnosing difficult cases like Aurelius' to a network of clinical sites around the country. (more)

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Current Topics in Genome Analysis 2012
Current Topics in Genome Analysis lecture series consists of lectures by local and outside speakers covering the major areas of genomics.

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Sequencing reliability study draws on contribution from NHGRI medical genetics findings

Read moreThere always seem to be exceptions to the rule. In a study performed at the Broad Institute of MIT and Harvard in Cambridge, Mass., researchers showed that not all diseases caused by mutation in a single gene, so-called mendelian disorders, can be rapidly discovered through whole-genome or whole-exome sequencing. Initial genotyping and sequencing of some gene candidates in the study, which focused on a type of kidney disease, had been performed by NHGRI Associate Investigator Suzanne Hart, Ph.D., who is a member of the Office of the NHGRI Clinical Director. The study, "Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing" appeared in the Feb. 10, 2013 advance online edition of Nature Genetics.

Last Updated: February 28, 2013