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.

The Rare Diseases Clinical Research Network (RDCRN) is launching a contact registry to connect rare disease patients with researchers and advance rare disease research. The registry will collect and maintain the contact information of people who want to receive information about rare diseases research. It will also inform participants about opportunities to participate in research.

The Inherited Neuropathy Consortium (INC) is a group of academic medical centers, patient advocacy organizations, and clinical research resources dedicated to conducting clinical research in Charcot-Marie-Tooth disease, a group of disorders that affect the peripheral nerves. Here, program manager Shawna Feely, MS, LGC, and principal investigator Michael Shy, MD, share the history of the consortium, current research, and future plans. 

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.

The National Institutes of Health-funded R25 Rare Disease Clinical Research Training Program is launching a new training program for clinical research in rare disease. Now in its seventh year, this year-long, hybrid, free program is designed to support new investigators in the field of rare disease clinical research.

Don’t miss the in-person and virtual celebration of Rare Disease Day at NIH on Thursday, February 29, 2024, from 9 am to 5 pm EST.