Eva Morava, MD,PhD

Dr. Eva Morava completed her specialty training in both Europe and the United States, specializing in pediatrics, genetics, and metabolic disorders. She brings decades of experience in diagnosing, treating, and managing inborn errors of metabolism (IEM), with a particular focus on congenital disorders of glycosylation (CDG) and mitochondrial disorders.

Dr. Morava has served on newborn screening committees in multiple states and has been a council member of the Society for the Study of Inborn Errors of Metabolism (SSIEM). She is actively involved in the development of novel therapies for genetic disorders, with her current focus on clinical trials in IEM. She serves as the Principal Investigator for the U54 FCDGC consortium, which is dedicated to studying congenital disorders of glycosylation.

CDG encompasses more than 180 distinct genetic disorders, many of which have only 4-10 known patients worldwide. In response to these ultra-rare conditions, Dr. Morava and her team have established a nationwide network of regional centers aimed at developing treatments to address the unmet needs of this patient population. The mission of the FCDGC consortium is to improve clinical outcomes, quality of life, and life expectancy for individuals with CDG through advancing knowledge, developing and validating new diagnostic tools, and creating therapies that restore appropriate glycosylation.

Since 2018, Dr. Morava has served as Editor and Editor-in-Chief of the Journal of Inherited Metabolic Disease. In 2023, she became the Editor-in-Chief of Molecular Genetics and Metabolism, a journal committed to publishing the latest research and clinical findings in IEM. Her research laboratory focuses on translational research in mitochondrial disorders and CDG. With over 350 publications to her name, Dr. Morava collaborates closely with organizations like the United Mitochondrial Disease Foundation (UMDF) and CDG CARE, where she serves on the advisory board. She is also the co-chair for the MSSM site for the National Organization for Rare Disorders (NORD).

Dr. Morava is deeply committed to education, particularly in the realm of patient education. She plays a key role in course development and education at the North American Metabolic Academy, oversees the Medical Genetics Residency and Fellowship Program, and directs the Program for Inherited Metabolic Diseases at the Department of Genetics and Genomic Sciences, Division of Medical Genetics and Genomics at Mount Sinai.

 

SELECTED AWARDS

• Lecturer of the Year: Course Master of Molecular Sciences, Radboud University, Nijmegen, Netherlands, 2012
• CDG Hope and Dream Award, Congenital Disorders of Glycosylation, World Conference, Barcelona, Spain, 2013
• APRA Award, Mayo Clinic Ventures, Mayo Clinic, Rochester, MN, Developing novel dietary therapies in congenital disorders of glycosylation, 2019 - 2021
• Top Doctor in Genetics, America’s Top Doctors, Minnesota, 2020, 2021, 2022, 2023, 2024
• “Top Performing Provider” Patient Experience Award, Mayo Clinic, Rochester, MN, 2021
• Teaching Excellence Award MCASOM, Alix School of Medicine, Rochester, MN, 2023

 

SELECTED PUBLICATIONS

 

Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. PMID: 34653363; PMCID: PMC8595932.

Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Am J Hum Genet. 2021 Jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11. PMID: 33979636; PMCID: PMC8206387.

Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E. Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions. Genet Med. 2024 Feb;26(2):101027. doi: 10.1016/j.gim.2023.101027. Epub 2023 Nov 10. PMID: 37955240.

Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability. Genet Med. 2022 Apr;24(4):894-904. doi: 10.1016/j.gim.2021.12.012. Epub 2022 Jan 15. PMID: 35042660.

Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Ann Neurol. 2021 Dec;90(6):887-900. doi: 10.1002/ana.26245. Epub 2021 Oct 26. PMID: 34652821; PMCID: PMC8820356.

Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22. PMID: 29576219; PMCID: PMC5985281.

Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. Am J Hum Genet. 2019 May 2;104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11. PMID: 30982613; PMCID: PMC6506806.

Wortmann SB, de Brouwer APM, Wevers RA, Morava E. SERAC1 Deficiency. 2014 Apr 17 [updated 2020 Jul 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24741715.

Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs- Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrialfunction and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. PMID: 22683713.

Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. PMID: 24499211; PMCID: PMC4373661.