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CMT

Brett McCray, MD, PhD
Former Inherited Neuropathy Consortium Scholar Publishes on Genetics of Charcot Marie Tooth (CMT) Disease
June 22, 2021

Mentorship and investment in early-career researchers pays off

Recent research published in Nature Communications offers new insights into the genetics of inherited neuropathy and Charcot Marie Tooth (CMT) disease, a degenerative nerve disease that usually manifests with weakness and sensation loss in the feet and hands. Lead author Brett McCray, MD, PhD, from Johns Hopkins Medicine and his colleagues identified the small GTPase RhoA as a novel binding partner for TRPV4 and found that neuropathy mutations in TRPV4 completely disrupted RhoA binding.

Inherited Neuropathy Consortium
INC
Charcot Marie Tooth
CMT
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The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). The RDCRN websites are hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.