Kristen Wheeden and her son, Brady
August 02, 2021

Patients, Physicians and Research Collaboration Are Key to Porphyria Trials, Treatment

Kristen Wheeden is executive director of the American Porphyria Foundation. She is also the incoming chair of the Rare Diseases Clinical Research Network (RDCRN)’s Coalition of Patient Advocacy Groups (CPAG), after serving last year as co-chair. In this interview, she describes how her son’s diagnosis drew her to patient advocacy.

Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) logo
July 08, 2021

A new genetic cause of Congenital Disorders of Glycosylation (CDG) has been identified, according to a recent study in The American Journal of Human Genetics. This means a blood sample can now confirm diagnosis of this form of CDG, notes Andrew C. Edmondson, MD, PhD, an attending physician in Human Genetics and Metabolism at Children’s Hospital of Philadelphia and co-author on the study. Edmondson is one of the founding members of Frontiers in Congenital Disorders of Glycosylation (FCDGC).

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.