NIH establishes Rare Diseases Clinical Resear...( er Approximately 25 million peo...)

Approximately 25 million people in the United States are affected by an estimated 6,000 rare diseases or conditions. Diseases to be studied in the centers include: urea cycle disorders; Angelman's syndrome; Prader-Willi syndrome; Rett syndrome; periodic paralysis; non-dystrophic myotonic disorders; episodic ataxia; aplastic anemia; paroxysmal nocturnal hemoglobinuria; single lineage cytopenias, including granular lymphocyte leukemia, pure red cell aplasia, and myelodysplastic syndromes; vasculitis disorders; inborn defects in steroid hormone pathways; alpha-1 antitrypsin deficiency; lymphangioleiomyomatosis; pulmonary alveolar proteinosis; and hereditary idiopathic pulmonary fibrosis.

"Because of the small number of affected patients in any one location, rare disease research requires the collaboration of scientists from multiple disciplines and the capacity to share access to geographically distributed national research resources and patient populations," said Judith L. Vaitukaitis, M.D., director of the National Center for Research Resources (NCRR), one of the NIH funding components. "With a collaborative approach, the network will focus on identifying biomarkers for disease risk, disease severity and activity, and clinical outcome, while encouraging development of new approaches to the diagnosis, prevention, and treatment of rare diseases."

"The network will facilitate increased collaboration and data sharing between investigators and patient support groups working to improve the lives of those affected by these diseases and potentially prevent or eliminate these diseases in the future," said Stephen Groft, Pharm.D., director of NIH's Office of Rare Diseases. "In addition, knowledge about rare diseases may offer leads for scientific advancement in other rare diseases and in more common diseases."

This network supports the re-engineering of the clinical research enterprise component presented recently in the "Roadmap for Me
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Contact: Joyce McDonald
info@ncrr.nih.gov
301-435-0888
NIH/National Center for Research Resources
3-Nov-2003