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

Departamentos

Location

  1. Rochester, Minnesota

Idiomas

English

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. She has decades of experience in the diagnostics, follow-up and treatment in IEM, especially in mitochondrial disorders and congenital disorders of glycosylation.

Dr Morava is actively involved in developing novel therapies in genetic disorders. She is involved in clinical trials. Currently she focusses on clinical trials in congenital disorders of glycosylation (CDG). She is also the main PI of the multicenter study on the Natural history of congenital disorders of glycosylation.

Dr Morava 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 is working in close collaboration with the UMDF and CDG-CARE, where she is also an advisory board member.

Dr Morava is passionate about education, especially patient education. She is regularly involved in patient educational events and she aims at sharing difficult genetic material with her patients as a partner.

  1. Congenital disorder
  2. Congenital metabolic disorder
  3. Congenital myopathy
  4. Genetic disorders
  5. Inborn error of metabolism
  6. Metabolic disorders
  7. Metabolic liver disease
  8. Metabolic myopathy
  9. Mitochondrial disease
  10. Mitochondrial myopathy
  11. Neurodegeneration
  12. Progeria
  • Mitochondrial disease: diagnostics and therapy: Mitochondrial disorders are inborn errors with a highly variable multisystem phenotype, and a lot of overlap with other multisystem disorders. There has been a long search for reliable diagnostic criteria. I established a modified scoring system, which has been used for more then 10 years to diagnose mitochondrial disease. Recently I also defined the diagnostic flow chart for mitochondrial diagnostics and my updated diagnostic chart, adapted for the next generation sequencing era. Under my lead my group defined a metabolic syndrome (MEGDEL syndrome; due to mutations in SERAC1), which is a novel mitochondrial disease, affecting several metabolic pathways. This disorder has a novel pathomechanism, through affecting phospholipid synthesis and membrane integrity and mitochondrial associated membrane structures. The description of MEGDEL syndrome and depicting its metabolic background led to the definition of the new metabolic disorder group, phospholipid disorders and brought a novel concept for 3-methyl glutaconyl acidurias, and understanding mitochondrial disease pathomechanism. I focus on diagnostics, follow up and therapy in mitochondrial disease.
  • Congenital disorders of glycosylation—discovering new disorders: Congenital disorders of glycosylation (CDG) form a novel, quickly growing group of inborn errors. Currently more then 100 types are known, and the list of types is continuously growing. There has been a large number of patients followed by CDG type x; already known with the biochemical diagnosis CDG, but without understanding the underlying genetic background. With my lead my group discovered several inborn errors of protein glycosylation and defined the phenotype in several rare CDG types. Initially using linkage and homozygosity mapping, recently, by next generation sequencing I had a crucial role in the definition of ATP6V0A2-CDG, SRD5A3-CDG, SLC35A1-CDG, ATP6V1A-CDG, ATP6V1E1-CDG and PGM1-CDG. I was also involved in the discovery of DPM2-CDG, DPM1-CDG, COG7-CDG, MAN1B1-CDG, ATP6VAP1-CDG, CCDC115-CDG, and TMEM199-CDG. The discoveries of the new disorders had a major impact on patient care and counseling, and understanding much better glycosylation and its regulation.
  • Congenital disorders of glycosylation: developing therapies. Until 2014 there were no reliable treatment options in CDG, only MPI-CDG type was treatable, by dietary mannose therapy. Under my lead my group discovered novel therapies, and performed the first organ transplantations in previously not treatable types of congenital disorders of glycosylation. Based on the mannose therapy, increasing substrate availability we have been searching for novel options in dietary treatment. The first breakthrough was done in phosphoglucomutase therapy with the use of the monosaccharide D-galactose added to the diet, improving endocrine, coagulation and liver function. Galactose treatment in PGM1-CDG led to treatment trials and successful dietary treatment in other types of CDGs as well. I also had a leading role in the first liver transplantation in MPI-CDG, with full metabolic recovery of the patient, the first hear transplantation in DOLK-CDG and an increasing number of transplantations in other milder forms of CDG.
  • Defining the new syndrome group: metabolic cutis laxa, previously called ARCL type 2A. Cutis laxa syndrome is a growing group of connective tissue disorders, occurring due to congenital structural anomalies of the Eleatic fibers. Some patients however show a progressive improvement in their features (reverse aging), pointing towards a different pathomechanism. I described the first time the glycosylation abnormalities in autosomal recessive cutis laxa type 2A patients, and defined the characteristic phenotype. This led to the multicenter project studying an large patient group and solving the underlying gene defect. Upon understanding the pathomechanism, based on abnormal Golgi trafficking and elastic fiber maturation, we discovered the abnormalities in glycosylation, leading to the clinically recognizable secondary CDG syndrome. Consecutively I defined a new cutis laxa syndrome, also associated with CDG, which was also genetically defined recently. Since my initial description of the new disease, metabolic cutis laxa, several new inborn errors have been found with different metabolic abnormalities, and the list of disorders is ongoing.
  1. 2010
    Master of Management - Radboud Leergang voor Internal Management: RLIM internal university management course (1.5 years)Radboud University
  2. 2004
    FellowshipNijmegen Medical School, Radboud University
  3. 1998
    FellowshipTulane University School of Medicine
  4. 1994
    ResidencyUniversity Medical School of Pecs
  5. 1990
    MDUniversity Medical School of Pecs

Certificaciones

  1. 1999
    Medical GeneticsHungarian Board of Qualification
  2. 1998
    Neonatal-Perinatal MedicineHungarian Board of Qualification
  3. 1994
    PediatricsHungarian Board of Qualification

Reconocimientos y distinciones

  1. 2019
    APRA awardMayo Clinic Ventures
  2. 2013
    CDG Hope and Dream AwardCongenital Disorders of Glycosylation World Conference
  3. 2012
    Lecturer of the year: course Master of Molecular SciencesRadboud University Nijmegen
  4. 2012
    Best Scientific Team Under Supervision Morava/Lefeber in Metabolic MedicineESN
  5. 2010
    Best metabolic pediatrician tutor priceRadboud University Nijmegen
  6. 2009
    UHD in metabolic disorders and dysmorphology Radboud University
  7. 2007
    Habilitation in Human GeneticsUniversity of Pecs Medical School
  8. 2000
    Bolyai János Stependium in Medical SciencesHungarian Academy of Sciences

Membresía en asociaciones profesionales

  1. 2019 - present
    MemberCenter for Individualized Medicine (CIM), Mayo Clinic Rochester
  2. 2019 - present
    Board MemberPhalen McDermid Foundation
  3. 2017 - present
    subcoordinatorMetabERN, European Metabolic reference Networks
  4. 2016 - present
    Board MemberSociety for the Study of Inborn Errors of Metabolism Council
  5. 2015 - present
    Editor in ChiefSSIEM
  6. 2015 - present
    Council Membersociety for the study of inborn errors of metabolism
  7. 2015 - present
    MemberBelgian Metabolic Society
  8. 2014 - present
    MemberSociety of Inborn Metabolic Disease
  9. 2005 - present
    MemberDutch Society for Metabolic Disorders
  10. 2004 - present
    MemberDutch Society of Pediatrics
  11. 2002 - present
    MemberASHG
  12. 2002 - present
    MemberEuropean Society of Human Genetics
  13. 1998 - present
    MemberAmerican Society of Human Genetics
  14. 1998 - present
    MemberSociety for the Study of Inborn Errors of Metabolism

Publicaciones

Actividades de investigación

See a description of research activities.