About J.M.A. (Judith) Verhagen, MD, PhD
Introduction
I am a clinical geneticist and assistant professor in cardiogenetics, dedicated to improving outcomes for individuals and families affected by inherited cardiovascular diseases. I am particularly motivated by the complexity of these diseases: their variable presentations, the many unsolved cases, and the current limitations in treatment. As a principal investigator, I am to bridge critical knowledge gaps to reduce disease burden and enhance quality of life.
My research focuses on pediatric cardiomyopathy, with the goal of advancing personalized care. In my lab, we investigate novel disease-causing genes, unravel molecular mechanisms, and explore therapeutic targets using patient-derived materials and zebrafish models.
Education and career
2007: MD, Maastricht University
2018: Visiting research trainee, Johns Hopkins Medicine, McKusick-Nathan Institute, Department of Genetic Medicine
2019: PhD, Erasmus University Rotterdam Thesis: “Genetics of Cardiovascular Disorders”
2019: Clinical geneticist, board-certified
Publications
Key publications
Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings. Zheng SL, et al. (2025) Nat Genet. 57(3):563-571.
Genotype-negative hypertrophic cardiomyopathy: Exploring the role of cardiovascular risk factors in disease expression. Schoonvelde SAC, et al. (2025) Int J Cardiol. 15;437:133444.
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization. Ruijmbeek CW et al. (2023) JCI Insight. 8(17):e168247.
Genetic evaluation of a nation-wide Dutch pediatric DCM cohort: the use of genetic testing in risk stratification. van der Meulen MH, et al. (2022) Circ Genom Precis Med. 15(5):e002981.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. Herkert JC, Verhagen JMA, et al. (2020) Am Heart J. 225:108-119.
Biallelic variants in ASNA1, encoding a cytosolic targeting factor of tail-anchored proteins, cause rapidly progressive pediatric cardiomyopathy. Verhagen JMA, et al. (2019) Circ Genom Precis Med. 12(9):397-406. Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy. Almomani R, Verhagen JM, et al. (2016) J Am Coll Cardiol. 67(5):515-25.
Teaching activities
Other positions
Member of Working Group Cardiogenetics (VKGN)
2026-2031: Member of PRECISE consortium (NWO & Dutch Heart Foundation)
2021-2026: Member of Double Dose consortium (Dutch CardioVascular Alliance)
Scholarships, grants, and awards
2024: Vrienden van het Sophia grant
2023: Erasmus MC Young Investigator Grant
2020: Dekker grant Senior Clinical Scientist (Dutch Heart Foundation, 03-003-2020T062)
2017: Travel grant (Dutch Heart Foundation, 2017R013)
2017: EMBO Short-Term Fellowship (7301)
2016: Young Investigator Award: International Congress of Human Genetics
Recent Findings
Alumni
2025: Claudine W.B. Ruijmbeek, PhD student
2024: Abduallah Jabori, MSc student Genomics in Society
2024: Sjoerd Ruizenaar, MSc student Biology: Molecular Genetics and Biotechnology
2023: Victoria Boogaard, MSc student Molecular Medicine
2023: Rashida Ghazi, BSc student Biology and Medical Laboratory Research
2022: Marlène de Pee, BSc student Biology and Medical Laboratory Research
Societal outreach Documentary series Erasmus MC 24/7, Season 1, Episode 6 (2024, RTL5 & Videoland) Links to an external profile page
Zebravis helpt bij ontdekking van nieuw gen voor zeldzame hartspierziekte - Amazing Erasmus MC
Nieuwe zebravissen methoden - Cardiomyopathie Onderzoek Nederland
Tekort aan eiwit leidt tot hartfalen op kinderleeftijd | Hartedroom
Beter onderzoek door samenwerking met eerdere deelnemers | INVOLV
https://orcid.org/0000-0002-0340-3433
https://www.researchgate.net/profile/Judith-Verhagen
