Brett McCray, MD, PhD
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.

Felix Chan, PhD of Brown University
May 19, 2021

The Rare Diseases Clinical Research Network’s Developmental Synaptopathies Consortium (DSC) has named Felix Chan, PhD, as the winner of its first-ever TSC Alliance Young Investigator Award for research in tuberous sclerosis complex. Chan is a post-doctoral fellow in the laboratory of Judy Liu, MD, PhD in the Department of Molecular, Cellular Biology and Biochemistry at Brown University.

Rare Disease Research Challenges, Opportunities Due to COVID-19 Featured in New Article
May 04, 2021

Challenges in conducting clinical research in the midst of the COVID-19 pandemic are spotlighted in an article from three consortia of the Rare Diseases Clinical Research Network (RDCRN). Their contribution was featured in the latest issue of Rare Neurological Diseases Special Report.

Heather Flanagan-Steet and Steven Sloan, 2021 Pilot Grant Winners
April 19, 2021

The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), in close partnership with CDG CARE, has awarded 2021 pilot grants to Heather Flanagan-Steet, PhD and Steven Sloan MD, PhD.

DC Career Development and Pilot Projects
March 23, 2021

The Dystonia Coalition (DC) is seeking applications for its Career Development and Pilot Projects programs.

Rare Disease Day at NIH | March 1, 2021 | #RDDNIH
February 15, 2021

Don’t miss the virtual celebration of Rare Disease Day at NIH on Monday, March 1, from 10:30 am to 5:30 pm EST. Goals include raising awareness about rare diseases, the people they affect, and NIH research collaborations underway to address scientific challenges and advance new treatments.

2021 Network Steering Committee
February 11, 2021

The Rare Diseases Clinical Research Network (RDCRN) is pleased to announce the 2021 leadership slate for its Network Steering Committee, which oversees governance and decision making for trans-network policies and procedures.