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President's bioethics commission releases report on genomics and privacy

Genomics and privacy are the focus of a new report released today by the Presidential Commission for the Study of Bioethical Issues. The report, which includes a dozen recommendations, concludes that individual interests in privacy must be respected and secured to realize the enormous promise that whole genome sequencing holds for advancing clinical care. Read more

Slit-lamp photographs show the cornea of a three-year-old patient with nephropathic cystenosis.

FDA approves crystal-dissolving eye drops, a major milestone for NIH rare disease researchers

Read the heroic story of how an experimental eye-drop solution containing a drug called cysteamine eliminates the painful and destructive crystalline shards in the eyes of patients suffering from a rare, inherited condition called nephropathic cystinosis. Learn how the eyedrop went from clinical trial, to FDA approval and availability for use on Oct. 3, 2012, The research was spearheaded by NHGRI Clinical Director, William Gahl, M.D., Ph.D.
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Genome Advance of the Month
Klebsiella pneumoniae bacteria

Whole genome sequencing used to track infection's transmission path

Using whole bacterial genome sequencing to trace the transmission of a hospital-acquired infection is this month's Genome Advance of the Month, a potentially important breakthrough for hospital epidemiology. Read more

Illustration with people, letters of A T C G and a stethoscope

Sequencing in cohort studies workshop video now available

On June 28-29, 2012, the National Human Genome Research Institute (NHGRI), sponsored a trans-NIH workshop - Sequencing in Cohort Studies and Large Sample Collections - at the National Institutes of Health in Bethesda, Md. Teri Manolio, M.D., Ph.D., NHGRI, and Eric Boerwinkle, Ph.D., University of Texas Health Science Center, co-chaired the workshop. Videos of the workshop are now available. Read more

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