Research at NHGRI
The Division of Intramural Research conducts a broad program of laboratory and clinical research.
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FDA approves crystal-dissolving eye drops, a major milestone for NIH rare disease researchers

EyesRead the heroic story about how an experimental eye-drop solution containing a drug called cysteamine eliminates the 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. (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.

Highlights

NHGRI and JHU scientists collaborate on mechanized analysis of melanocyte regulators

Cover of Genome Research magazine A team that includes Stacie Loftus, Ph.D., and William Pavan, Ph.D., both from NHGRI's Genetic Diseases Research Branch, and colleagues from the Johns Hopkins University, report in the Sept. 27, 2012, early online issue of Genome Research their research to detect regulators in mouse and human melanocytes. The team used an automated approach to the investigation of regulatory sequences. Read the study: Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes [genome.cshlp.org]
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Last Updated: September 28, 2012