The translational research line aims at elucidating novel genetic and metabolic disorders related to N-linked and O-linked protein glycosylation and disorders of Golgi trafficking. More specifically, our laboratories have been successfully used linkage analysis and next generation sequencing to discover novel diseases (ATP6V0A2-CDG, SRD5A3-CDG, PGM1-CDG) and evaluate the metabolic defect related to the gene defect to understand the underlying pathomechanism. The most recent discoveries included ATP6V1A and ATP6V1E1-CDG.
The clinical research line focuses on novel therapeutic approaches in CDG, including the role of dietary intervention and the role of organ transplantation in CDG.
1. Therapeutic and dietary intervention in PGM1-CDG: http://www.youtube.com/watch?v=1qgyVQNfJDE
2. V-ATPase function and CDG types with cutis laxa
3. Next generation sequencing in unsolved glycosylation defects
4. Natural course of disease in CDG (clinical trial in preparation)
5. Novel diagnostic methods in disorders of glycosylation
This research line is in close network with the Nijmegen Center for Congenital Disorders of Glycosylation, in collaboration with Dirk Lefeber, PhD, Ron A. Wevers, PhD, and PhD graduate students Thatjana Gardeitchik, MD, and Miski Mohamed, MD.
Southern Society for Pediatrics Research Conference
The Southern Society for Pediatrics Research Conference was organized in NOLA on February 11 to February 13.
Tess Gadomski, MD candidate and Taylor Fitzpatrick, Master candidate in the Neuroscience program presented their posters on their research on CDG with big success. Graeme Preston had an excellent oral presentation on a new PTSD model in mice investigating stress vulnerability with relation to mitochondrial function.
Southern Regional Meeting
Therese Gadomski, a second year medical student and DeBakey Scholar with the Morava Group, recently presented her work on galactose supplementation as an adjuvant therapy for PGM1-CDG at the 2015 Southern Regional Meeting. At the meeting, Therese was awarded a 2015 SSPR/APA Trainee Travel Award for her work.