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CDG

Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) logo
New Genetic Marker Identified for Congenital Disorders of Glycosylation
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).

Frontiers in Congenital Disorders of Glycosylation Consortium
FCDGC
Congenital disorders of glycosylation
CDG
New Research
Heather Flanagan-Steet and Steven Sloan, 2021 Pilot Grant Winners
FCDGC Announces 2021 Pilot Grant Award Recipients
April 19, 2021

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.

Frontiers in Congenital Disorders of Glycosylation Consortium
FCDGC
Pilot Grant
CDG
Video abstract with graphic showing the process of O-glycosylation
Researchers Identify New Congenital Disorder of Glycosylation, GALNT2-CDG
May 26, 2020

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.

Congenital disorders of glycosylation
CDG
FCDGC
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The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). The RDCRN websites are hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.