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).

Challenges in conducting clinical research in the midst of the COVID-19 pandemic are spotlighted in an article from three consortia of the Rare Diseases Clinical Research Network (RDCRN). Their contribution was featured in the latest issue of Rare Neurological Diseases Special Report.

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.

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.

The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) has awarded 2020 FCDGC Pilot Grants to Kent Lai, PhD, and Lan Lin, PhD.