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NIH Pledges $71M Over Five Years to Study Genetics of Rare Diseases

NEW YORK, May 5 (GenomeWeb News) - The National Institutes of Health said today that it has set aside $71 million in funding over the next five years to study the genetic component of rare diseases.


NIH today launched the Rare Diseases Clinical Research Network, a program in that will encompass more than 20 studies at about 50 sites in the US, UK, Japan, and Brazil.


The program will focus on conditions affecting fewer than 200,000 people in the US. About 6,000 such disorders have been identified, the NIH said, noting that they impact around 25 million Americans.


NIH said in a statement that few drug companies conduct research into these diseases, "since there is little chance to recoup the costs of developing treatments for such small, geographically dispersed populations."


The NIH Office of Rare Diseases and the National Center for Research Resources will coordinate the program, which will include "a central data and technology coordinating center and 10 research consortia."


Diseases highlighted for study include Angelman, Rett, and Prader-Willi syndromes; myelodysplastic syndrome and other bone marrow failure conditions; lymphangioleiomyomatosis, rare genetic disorders of the airways, and other rare lung diseases; episodic ataxia, Andersen-Tawil syndrome, and nondystrophic myotonias; several vasculitides; urea cycle disorders; antiphospholipid syndrome and other rare thrombotic diseases; rare pediatric liver diseases; and rare genetic steroid defects.


"By studying the genetic component of these rare diseases, we hope to be able to better predict the course of the illnesses and provide more effective, personalized treatments for those afflicted," said Elias Zerhouni, NIH director, in a statement. "Ultimately, this individualized approach, completely different from how we treat patients today, will allow us to prevent or to promptly treat the complications arising from these genetic disorders."

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