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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. Read more

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

NIH launches new genetics education resource

High school students, teachers and anyone else interested in genetics now have a remarkable educational resource called GeneEd. Developed by the National Library of Medicine in collaboration with the National Human Genome Research Institute, GeneEd explores topics such as cell biology, DNA, genes and chromosomes. Read more

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