CDG

Kent Lai, PhD, is a professor in the Division of Medical Genetics (Pediatrics) at the University of Utah. He is also a member of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). His research focuses on the development of novel therapeutics for both common and rare diseases, including congenital disorders of glycosylation (CDG). Here, he shares his start in rare disease research, exciting discoveries, and future goals. 

Steven Sloan, MD, PhD, is an assistant professor in the Department of Human Genetics at the Emory University School of Medicine, as well as a member of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). His research focuses on glial development and the role these cells play in neurodevelopmental and neuropsychiatric diseases, including congenital disorders of glycosylation (CDG). Here, he shares his start in rare disease research, exciting discoveries, and future goals.

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).

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.

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.