Medical Genetics and Genomics

Congenital Disorders of Glycosylation (CDG) Program

Our specialized Congenital Disorders of Glycosylation Program manages the care of more CDG patients than any other program in the nation. We are dedicated to early diagnosis, comprehensive management, counseling, and ongoing support for individuals with congenital disorders of glycosylation. Through our involvement with the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), we focus on advancing diagnostic methods, discovering biomarkers, and preparing for clinical trials. Our integrated approach combines basic, translational, and clinical research to improve patient outcomes.

Our multidisciplinary team includes medical biochemists, clinical geneticists, metabolic dietitians, and specialists in pediatrics, hepatology, endocrinology, hematology, neurology, cardiology, nephrology, and transplantation. We collaborate closely with diagnostic laboratories within the Departments of Genetics and Genomic Sciences and Pathology, as well as with the Morava-Kozicz CDG research laboratories.

We maintain strong partnerships with patient support groups like CDG Care and work extensively with other FCDGC clinical sites and glycosylation experts worldwide.

Meet our CDG Program Faculty:
Eva Morava, MD, PhD
Georgia McDonald GC
Mary Freeman GC

Collaborators:
Tamas Kozicz, MD, PhD