Brittle Bone Disorders Consortium logo
August 12, 2021

Children with osteogenesis imperfecta (OI) may experience growth plate dysfunction, according to a recent study in the journal Bone. Researchers from the Brittle Bone Disorders Consortium (BBDC) found a higher ratio of collagen X (CXM) levels for growth velocity in children with OI, revealing new clues about how this disease may affect the growth plate.

Kristen Wheeden and her son, Brady
August 02, 2021

Kristen Wheeden is executive director of the American Porphyria Foundation. In this interview, she describes how her son’s diagnosis drew her to patient advocacy. Wheeden 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.

A Rare Disease Day Update: RDCRN Survey on Impacts of COVID-19
July 23, 2021

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).

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.