Researchers from the Rare Diseases Clinical Research Network deliver an update on the survey of the impacts of COVID-19 of people living with rare diseases during Rare Disease Day at NIH, March 2021. Video features Marc E. Rothenberg, MD, PhD, Principal Investigator of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) and Thomas W. Ferkol, MD, Co-Principal Investigator of the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC).
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).
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.
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.
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.
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.
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.