FCDGC Announces 2021 Career Enhancement Fellows Dakota Campbell Wed, 10/20/2021 - 10:10
Headshots of Jehan Mousa and Diederik De Graef
Jehan Mousa (left) and Diederik De Graef

The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) has named Jehan Mousa and Diederik De Graef as their 2021 Career Enhancement Fellows.

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).

Rare Disease Research Challenges, Opportunities Due to COVID-19 Featured in New Article sheila.wolfer@… Tue, 05/04/2021 - 12:40
Rare Disease Research Challenges, Opportunities Due to COVID-19 Featured in New Article

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.

FCDGC Announces 2021 Pilot Grant Award Recipients sheila.wolfer@… Mon, 04/19/2021 - 14:55
Heather Flanagan-Steet and Steven Sloan, 2021 Pilot Grant Winners
Heather Flanagan-Steet and Steven Sloan, 2021 FCDGC Pilot Grant Winners

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.

FCDGC Natural History Study Reveals Liver Implications for Patients with CDG Dakota Campbell Wed, 01/27/2021 - 13:54
The FCDGC natural history study team meeting via Zoom

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.

FCDGC Announces 2020 Pilot Grant Award Recipients Dakota Campbell Fri, 09/11/2020 - 15:01
Dr. Kent Lai and Dr. Lan Lin
Dr. Kent Lai and Dr. Lan Lin

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

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.