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).

Researchers Identify New Congenital Disorder of Glycosylation, GALNT2-CDG Dakota Campbell Tue, 05/26/2020 - 12:00
Video abstract with graphic showing the process of O-glycosylation

Seven patients now have a name for their specific congenital disorder of glycosylation (CDG)—a new type called GALNT2-CDG. Researchers from Frontiers in Congenital Disorders of Glycosylation (FCDGC) describe the new disorder, caused by mutations in the GALNT2 gene, in the journal Brain.