RDCRN Research Roundup: October 2021 Dakota Campbell Tue, 10/05/2021 - 09:28
Research Roundup. #RareDiseasesSpotlight. Rare Diseases Clinical Research Network

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

Higher Levels of Collagen X with Lower Growth Velocity May Reflect Growth Plate Dysfunction in Osteogenesis Imperfecta Dakota Campbell Thu, 08/12/2021 - 09:43
Brittle Bone Disorders Consortium logo

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.

New Genetic Marker Identified for Congenital Disorders of Glycosylation Dakota Campbell Thu, 07/08/2021 - 13:58
Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) logo
Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC)

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).