PRESENTATION TITLE

Congenital Disorders of Glycosylation; It’s Sugar Coded

PRESENTER(S)
Eva Morava-Kozicz, MD, PhD

PRESENTER BIO

Dr. Morava did her specialty trainings in Europe and also in the US, as pediatrician, geneticist and metabolic specialist. Her major clinical expertise is inborn errors of metabolism (IEM). She has decades of experience in the diagnostics, follow-up and treatment in IEM, especially in mitochondrial disorders and congenital disorders of glycosylation (CDG). She is on the Minnesota newborn screening committee. She is council member of the Society for the Study on Inborn Errors of Metabolism (SSIEM). She is actively involved in developing novel therapies in genetic disorders. Currently she focusses on clinical trials in IEM. She is also the main PI of the U54 FCDGC consortium https://www.rarediseasesnetwork.org/fcdgc studying congenital disorders of glycosylation. She is the Editor in Chief of the Journal of Inherited Metabolic Disease. This journal has the mission to publish on the most current topics, clinical findings and research in inborn errors of metabolism, and share the knowledge with colleagues and scientists. Dr. Morava has a research laboratory, focusing on translational research in mitochondrial disorders and congenital disorders of glycosylation. She has more than 300 publications. She is working in close collaboration with the UMDF and CDG-CARE, where she is an advisory board member. She is passionate about education, especially patient education.

LEARNING OBJECTIVES 
After the presentation, attendees will be able to:

• Recognize the biochemical background of congenital disorders of glycosylation (CDG), and potential diagnostic and analytic methods of glycosylation

• Review the genetic and clinical diversity in CDG

• Locate information to upcoming clinical trials in CDG