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Division of Intramural Research
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Division of Intramural Research Calendar
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Home Research Intramural Research
The Division of Intramural Research
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NHGRI's Division of Intramural Research plans and conducts a broad program of laboratory and clinical research to translate genomic and genetic research into a greater understanding of human genetic disease, and to develop better methods for the detection, prevention and treatment of heritable and genetic disorders. |
News and Events
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NHGRI's James C. Mullikin, Ph.D., Genome Technology Branch, and Fabio Candotti, M.D. and Karen L. Simon-Stoos, both of the Genetic and Molecular Biology Branch, are co-authors of a study that identified a previously unknown mechanism involved in regulation of hematopoietic cell differentiation in one of the most severe human immunodeficiency syndromes. Dr. Mullikin and colleagues at the NIH Intramural Sequencing Center discovered the first mutations in the adenylate kinase 2 (AK2) gene in several patients. Dr. Candotti's group performed the fine mapping of some of those mutations, and found new ones in other patients. The disease combines maturation arrest in the myeloid lineage and global impairment of lymphoid maturation. In addition, affected patients have deafness. Knowing the gene responsible opens the way to learning more about the steps needed for the correct development of the development of the lymphoid and myeloid systems, as well as that of the ear. It also provides a tool for specific early and
possibly prenatal molecular diagnosis. Human adenylate kinase 2 deficiency causes a profound haematopoietic defect associated with sensorineural deafness is in the Nov. 30, 2008 online issue of Nature Genetics.
[Full Text ]
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NHGRI's Vence L. Bonham, J.D. and Erin M. Ramos, Ph.D., M.P.H. are authors of a commentary on a study that alerts the Canadian biomedical community of disparities in the health of an African Canadian group, suggesting that the findings may guide new health interventions to improve the health of racial and ethnic minorities in North America. The commentary titled, Unravelling the contribuions of social, environmental and genetic factors to health differences, is in the September 23, 2008 issue of the Canadian Medical Association Journal.
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Division of Intramural Research Tenure Track Positions |
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The 2008 NHGRI Intramural Research Brochure (60Mb)  |
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Current Topics in Genome Analysis 2008 |
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Division of Intramural Research News Features |
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News and Events Archive |
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NHGRI Event Webcasts |
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To view the PDFs on this page you will need Adobe Acrobat Reader.
Last Reviewed: December 1, 2008
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Genomics in Action
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K. J. Myung, Ph.D. won't just tell you about unstable genomes, he'll show you one. He studies genome instability, which is both a characteristic of and, in some cases, a trigger for many genetic diseases, including cancer. (more)
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