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In Hearing, NIH Director Applauds CMTA's Research Collaboration with the NCGC

NIH Director Dr. Francis Collins Applauds the CMTA’s Research and Drug Development Collaboration with the National Chemical Genomics Center (NCGC) during Congressional Hearing

On June 15, 2010 the U.S. House of Representatives’ Committee on Energy and Commerce, Subcommittee on Health, held a hearing titled “NIH in the 21st Century: The Director’s Perspective.” Testifying before the Congressional Subcommittee was NIH-Director Dr. Francis Collins. During Dr. Collins’ testimony, the following exchange occurred with Representative Eliot Engel (D-NY):

ENGEL: I’d like to ask you about Charcot-Marie-Tooth Disease. There is an innovative partnership between the NIH’s National Chemical Genomics Center and the Charcot-Marie-Tooth Association. I’ve worked with that association and I think that this could serve as a model of future rare disease research and drug development, and so I’m wondering if you could describe the program and offer some thoughts on it.

DR. COLLINS: I appreciate the question because I do agree this is a very exciting program. My father-in-law has Charcot-Marie-Tooth disease and so this is a disorder that is not only something from my clinic but also from my family’s experience, and this is an interesting disorder which causes a weakness of the legs particularly, but also the hands over the course of time and can be quite debilitating, but it is well-understand now what the cause of that is…the genetic abnormality has been now laid out in great clarity, but what could you do about it? Working with the NIH Genomic Center, which is this remarkable facility that has been mentioned already at least once in this hearing. It is…an effort is being made to identify a small molecule, which is sort of a drug that would basically compensate for the genetic problems that’s found in individuals with this type of Charcot-Marie-Tooth disease, so-called CMT1A, and that is an early stage effort but it’s a good example of this therapeutics for rare and neglected diseases effort that NIH is putting an increasing effort into. Charcot-Marie-Tooth is too rare for companies to generally see this as a good investment for them in terms of developing a therapy. But with the chemical genomic center working with academic investigators who know a lot about the disease…if they can push this forward to the point of identifying a promising compound, then you can imagine a company getting pretty interested in licensing it out and carrying it all the way through to a clinical trial.

The CMTA commends Representative Engel and the Subcommittee for their continued support of CMT research. The CMTA is honored to have the NCGC as a partner in our quest to find therapies and cures for CMT, and is greatly appreciative of Dr. Collins and his colleagues throughout the NIH for their commitment to rare disease research and drug development.

Additional information about the hearing, including a full transcript of Dr. Collins’ testimony can be found at

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