NIH Research Festival 2012 Program - Research Festival - National ...

Concurrent Symposia Session III
Natcher Conference Center
Balcony A
50
Wednesday, October 10, 2012
2:00 p.m.–4:00 p.m.
Rare disease research in the Bedside to Bench
Program: Intramural-Extramural partnerships
advancing translational science at the NIH
Clinical Center
Co-Chairs: PJ Brooks, NCATS; and Steve Groft, OD
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.
Alexandra Freeman, NIAID
Role of Pathogen-specific IgE and histamine release in the Hyper-IgE syndrome
Phillip Pearl, Children’s National Medical Center
GABAB receptor antagonist SGS-742 treatment in SSADH deficiency
Karen Berman, NIMH
Brain, genes, and behavior, in Williams syndrome
Craig Blackstone, NINDS
Common cellular themes for the hereditary spastic paraplegias
Douglas Stewart, NCI
The DICER1-related pleuropulmonary blastoma cancer predisposition syndromees
for the hereditary spastic paraplegias