Rare disease research in the Bedside to Bench Program: Intramural-Extramural partnerships advancing translational science at the NIH Clinical Center

Wednesday, October 10, 2012 — Concurrent Symposia Session III
2:00 p.m. – 4:00 p.m.	Balcony A

Co-chairs

• PJ Brooks, NCATS
• Steve Groft, OD

Program

The NIH Bedside-to-Bench (B2B) program funds research teams translating basic scientific findings into clinical studies or taking clinical observations to the laboratory and, with further investigation, back to the clinic. Projects have been funded across multiple research categories, with rare diseases being a primary component. The program expanded to include intramural and extramural investigators in 2006, and now provides extramural scientists access to the NIH Clinical Center, exemplifying the benefits of intramural – extramural collaborations. The Office of Rare Diseases Research (ORDR) is part of the new National Center for Advancing Translational Science (NCATS), which came into existence late last year, and there are plans for a new B2B partnership mechanism, making 2012 an opportune time to highlight some exciting and productive rare disease projects. The projects selected involve intramural investigators from 4 different ICs, studying multiple types of diseases, and should therefore be of broad interest.

Role of Pathogen-specific IgE and histamine release in the Hyper-IgE syndrome
Alexandra Freeman, NIAID

GABAB receptor antagonist SGS-742 treatment in SSADH deficiency
Phillip Pearl (Children's National Medical Ctr), OD

Brain, genes, and behavior, in Williams syndrome
Karen Berman, NIMH

Common cellular themes for the hereditary spastic paraplegias
Craig Blackstone, NINDS

The DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
Douglas Stewart, NCI

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