NHGRI researchers identify gene for inherited bleeding disorder
An eight-year gene hunt has culminated successfully for NHGRI researchers studying the inherited bleeding disorder gray platelet syndrome (GPS). The researchers found that mutations in the NBEAL2 gene cause GPS. The study was published in the July 17, 2011, early online issue of Nature Genetics. Read more
NHGRI's Ethical, Legal and Social Implications Research Program Updates Priorities
NHGRI's Ethical, Legal and Social Implications (ELSI) research program has re-focused its research to stay in step with genomic advances. The program is now aligned with NHGRI's new strategic plan for the future of genomics, Charting a Course for Genomic Medicine from Base Pairs to Bedside published in the journal Nature in February. NHGRI has issued three new program announcements to support studies that address the most pressing ELSI issues. Read more
Transforming clinical care with whole genome sequencing
The June issue of Science Translational Medicine reported on fraternal twins, a brother and sister, who suffer from two inherited genetic mutations that threatened to impede or even prematurely end their lives. June's Genome Advance of the Month features how whole genome sequencing at the Human Genome Sequencing Center at Baylor College of Medicine - one of three facilities that comprise NHGRI's large-scale genome sequencing program - led to the discovery and treatment that transformed their lives. Read more
P. Paul Liu, M.D., Ph.D., a tenured senior investigator who joined the National Institutes of Health in 1993, has been named deputy scientific director of the National Human Genome Research Institute. Dr. Liu will help provide scientific and administrative leadership in the Institute's Division of Intramural Research. Read more
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