Eva Morava-Kozicz, M.D., Ph.D., conducts translational research in mitochondrial disorders and congenital disorders of glycosylation (CDGs). Dr. Morava is actively involved in developing dietary therapies in genetic disorders and is the principal investigator of a multicenter study on the natural history of CDG.
Diagnostics therapy and follow-up of mitochondrial disease. Dr. Morava's modified scoring system has been used for more than 10 years to diagnose mitochondrial disease. It is now being adapted for the next-generation sequencing era to discover novel types of mitochondrial disorders, including the novel group of phospholipid synthesis defects.
Discovering new congenital disorders of glycosylation. Using next-generation sequencing, Dr. Morava played a crucial role in the definition of ATP6V0A2-CDG, SRD5A3-CDG, SLC35A1-CDG, ATP6V1A-CDG, ATP6V1E1-CDG and PGM1-CDG. She was also involved in the discovery of DPM2-CDG, DPM1-CDG, COG7-CDG, MAN1B1-CDG, ATP6VAP1-CDG, CCDC115-CDG and TMEM199-CDG, and is currently involved in unsolved disease discovery.
Developing therapies for CDGs. Dr. Morava is involved in evaluating therapies in CDGs, including transplantation and dietary therapies such as D-galactose therapy. She is investigating the D-galactose working mechanism and is involved in clinical trials of many types of CDGs. Dr. Morava is working in close collaboration with the patient associations United Mitochondrial Disease Foundation (UMDF) and CDG CARE.
Defining the new syndrome group of metabolic cutis laxa. Previously called ARCL type 2A, metabolic cutis laxa is a connective tissue disorder that causes premature aging. Dr. Morava first described the glycosylation abnormalities in ARCL type 2A, and defined the characteristic phenotype of the new disease, metabolic cutis laxa. Since then, several new inborn errors have been found with different metabolic abnormalities.
Significance to patient care
The findings from Dr. Morava's research have a major impact on patient care and counseling, and provide a better understanding of metabolic disease.
- Editor-in-chief, Journal of Inherited Metabolic Disease, 2016 to present
- Co-coordinator, MetabERN (European Reference Network), 2017
- Board member, Society for the Study of Inborn Errors of Metabolism, 2016
- Recipient, CDG Hope and Dream Award, World Conference on Congenital Disorders of Glycosylation, 2013
- Lecturer of the year, Master of Molecular Sciences, Radboud University Nijmegen, Netherlands, 2012