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.

Researchers Establish New Consensus Guidelines for Congenital Disorders of Glycosylation Dakota Campbell Mon, 12/07/2020 - 11:11
Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC)

Health care providers now have a road map for treating two types of congenital disorders of glycosylation: MPI-CDG and PGM1-CDG. A team of international experts from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) published new guidelines for the diagnosis and management of MPI-CDG and PGM1-CDG in the Journal of Inherited Metabolic Disease.

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.