Dr. Eva Morava-Kozicz, M.D, Ph.D.

Areas of expertise and specialization

Faculty Titles & Positions

• Professor of Medical Genetics Mayo Clinic, Rochester 2018 - Present

Awards

• CDG Hope and Dream Award 2013 World Conference on Congenital Disorders of Glycosylation 

Professional Memberships

• American Society of Human Genetics  
• Society for the Study of Inborn Errors of Metabolism  
• European Society of Human Genetics  
• American College of Medical Genetics  

Fellowships

• Medical School of the University of Pecs, Pecs, Hungary    1999
• Tulane University School of Medicine, New Orleans, LA    1998

Areas of research

Eva Morava-Kozicz, M.D., Ph.D., conducts translational research in congenital disorders of glycosylation (CDG) mitochondrial disorders and mitochondrial medicine. 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.

• 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.
• 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.
• 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.

The findings from Dr. Morava's research have a major impact on patient care and counseling, and provide a better understanding of metabolic disease.

Dr. Eva Morava-Kozicz, M.D, Ph.D.'s Practice location