Personal profile
Research interests
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.
Headline
SENIOR FACULTY | Genetics and Genomic Sciences, SENIOR FACULTY | Pediatrics
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
-
Albumin as a glycoprotein biomarker in congenital disorders of glycosylation
Garapati, K., Jain, A., Joshi, N., Sachdeva, G. S., Nam, D., Saraswat, M., Pasupuleti, R. R., Schultz, M. J., Kozicz, T., Morava, E. & Pandey, A., Apr 2026, In: Molecular Genetics and Metabolism. 147, 4, 109846.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape
Elsharkawi, I., Goldstein, A., Ganetzky, R. D. & Morava, E., Feb 2026, In: Pediatric Neurology. 175, p. 223-228 6 p.Research output: Contribution to journal › Review article › peer-review
-
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 – CDG
Sarafoglou, K., Lam, C., Edmondson, A. C., Miller, A., Starosta, R. T., Zeighami, A., Horikoshi, S., Vreugdenhil, H., Scaglia, F., Kozicz, T., Tan, Q. K. G., Miller, B. S., Martínez-Duncker, I., Berry, G. T., McWilliams, P., Morava, E. & Addo, Y., Jun 2026, In: Molecular Genetics and Metabolism. 148, 2, 110135.Research output: Contribution to journal › Article › peer-review
Open Access -
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Tinker, R. J., Jacob, N., Syed, M. G., Kelkar, J., Donnelly, C., Elsharkawi, I., Ganesh, J., Gelb, B. D., Pejaver, V., Kozicz, T. & Morava, E., Jan 2026, In: JIMD Reports. 67, 1, e70068.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1]
Liu, Y., Lam, C., Poskanzer, S., Thies, J., Stevens, H., Zhang, W., Morava, E. & He, M., Mar 2026, In: Molecular Genetics and Metabolism. 147, 3, 109708.Research output: Contribution to journal › Letter › peer-review
Press/Media
-
Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)
22/05/26
1 item of Media coverage
Press/Media
-
Researchers from Icahn School of Medicine at Mount Sinai Provide Details of New Studies and Findings in the Area of Neurology (Blood mitochondrial heteroplasmic variants and cognitive performance in late midlife: REGARDS study)
Horowitz, C., Bagiella, E., Lesseur, C., Prada, D., Morava, E. & Irizar, A.
11/05/26
1 item of Media coverage
Press/Media
-
Clinical Trial: Assessing the Safety and Tolerability of NMN in DHDDS-CDG
8/05/26
1 item of Media coverage
Press/Media
-
Icahn School of Medicine at Mount Sinai Researchers Provide New Data on Acute-Phase Proteins (Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG)
13/04/26
1 item of Media coverage
Press/Media
-
Mayo Clinic Reports Findings in Congenital Disorders of Glycosylation (Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency)
10/03/26
1 item of Media coverage
Press/Media