Eva Morava-Kozicz, MD, PhD of the Mayo Clinic in Rochester, MN profiles an overview of congenital disorders of glycosylation (CDG).

CDG are rare genetic disorders that impact glycosylation, a natural process in which sugar molecules are attached to proteins (glycoproteins) or lipids (glycolipids) that are involved in numerous functions throughout the body. Disruption of that process can have multiple and variable symptoms. Early symptoms can be noticeable at birth or in the first few months of life but it usually takes several months before they are often diagnosed. 

Dr. Morava-Kozicz participates in the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). The FCDGC is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI).

RDCRN has provided CDG researchers with a framework to collaborate with other researchers that have dramatically advanced our understanding of this disease. As Dr. Morava-Kozicz noted, the group began as an informal group of global researchers but with the assistance of the RDCRN they now have a more efficient means to share information, development biomarkers, expand the natural history studies and start clinical trials.  

To learn more about FDCGC, visit fcdgc.rarediseasesnetwork.org/.

To learn more about RDCRN, visit www.rarediseasesnetwork.org/.

To see more interviews with RDCRN Consortium researchers, visit checkrare.com/rare-diseases-clinical-research-network/.