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