Eva Morava-Kozicz, MD, PhD of the Mayo Clinic in Rochester, MN shares some tips for a rare disease group to be 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).
Dr. Morava-Kozicz is part of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) that is part of RDCRN. The consortium provides a template for clinical researchers to share information more efficiently about 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. At present, there are no treatments to address the various pathophysiologies of CDG and a RDCRN consortium has profoundly improved how the clinical researchers are able to share information. According to Dr. Morava-Kozicz, setting up a registry and natural history study was helpful in establishing their RDCRN consortium.
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/