Senior Researcher Spotlight: Kent Lai Develops Gene-Based Therapeutics for Congenital Disorders of Glycosylation Dakota Campbell Tue, 06/21/2022 - 09:48
Kent Lai, PhD, sitting in a chair in his lab

Kent Lai, PhD, is a professor in the Division of Medical Genetics (Pediatrics) at the University of Utah. He is also a member of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). His research focuses on the development of novel therapeutics for both common and rare diseases, including congenital disorders of glycosylation (CDG). Here, he shares his start in rare disease research, exciting discoveries, and future goals. 

Early Stage Investigator Spotlight: Steven Sloan Develops Brain Organoids to Study Congenital Disorders of Glycosylation Dakota Campbell Tue, 06/14/2022 - 09:46
Headshot of Steven Sloan, MD, PhD

Steven Sloan, MD, PhD, is an assistant professor in the Department of Human Genetics at the Emory University School of Medicine, as well as a member of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). His research focuses on glial development and the role these cells play in neurodevelopmental and neuropsychiatric diseases, including congenital disorders of glycosylation (CDG). Here, he shares his start in rare disease research, exciting discoveries, and future goals.

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).

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.