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Congenital disorders of glycosylation

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
The FCDGC natural history study team meeting via Zoom
FCDGC Natural History Study Reveals Liver Implications for Patients with CDG
January 27, 2021

A natural history study by the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is uncovering new insights on liver function in patients with congenital disorders of glycosylation (CDG). A paper published recently in the Orphanet Journal of Rare Diseases based on findings from the study recommends that all CDG patients have at least yearly comprehensive screening for liver disease, including physical exam, lab work, and imaging with ultrasound and elastography.

Frontiers in Congenital Disorders of Glycosylation Consortium
FCDGC
Congenital disorders of glycosylation
natural history study
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
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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.