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Patients and researchers working together moves CMT research forward

The Inherited Neuropathy Consortium (INC) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in different forms of CMT and improving the care of patients.

Former Inherited Neuropathy Consortium Scholar Publishes on TRPV4 Genetic Mutations

Mentorship and investment in early-career researchers pays off with laboratory success and new learning.

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.

 

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