Dr. Jo Vanoevelen

Dr. J. Vanoevelen

Assistant professor, junior PI


Model systems genomics


Maastricht UMC+
Klinische Genetica
Postbus 5800
6202 AZ Maastricht
T: 043 3882982  
E: j.vanoevelen@maastrichtuniversity.nl


Driven by the rapid evolution of Next-Generation Sequencing, an explosive amount of genetic variants are being uncovered. To aid the identification of pathogenic variants herein, model systems have an instrumental role. Zebrafish are elegant model systems for functional genetics due to their reproductive capacity, external fertilization and development, optical transparency and amenability to genetic modification. Besides the use of zebrafish for functional genomics, we are also using this model to answer fundamental questions.

The aim of this program is to make use of genome-modifying technologies in zebrafish to:

  • characterize disease-causing genetic variants
  • understand pathophysiology using genetic disease models
  • screen for novel therapeutic approaches

Our focus is on, but not restricted to neurological diseases (small-fiber neuropathy). We are also working on disease models in cardiogenetics and metabolic diseases (galactosemia and mitochondrial disorders).

Key publications

  • Jo M. Vanoevelen, Jörgen Bierau, Janine C. Grashorn, Ellen Lambrichs, Erik-Jan Kamsteeg, Levinus A. Bok, Ron A. Wevers, Marjo S. van der Knaap, Marianna Bugiani, Junmei Hu Frisk, Rita Colnaghi, Mark O’Driscoll, Debby M. E. I. Hellebrekers, Richard Rodenburg, Carlos R. Ferreira, Han G. Brunner, Arthur van den Wijngaard, Ghada M. H. Abdel-Salam, Liya Wang & Constance T. R. M. Stumpel. DTYMK is essential for genome integrity and neuronal survival. 
    Acta Neuropathologica volume 143, pages245–262 (2022). Springer Link
  • Eijkenboom I, Sopacua M, Otten ABC, Gerrits MM, Hoeijmakers JGJ, Waxman SG, Lombardi R, Lauria G, Merkies ISJ, Smeets HJM, Faber CG, Vanoevelen JM
    Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy. Exp Neurol. 2019; 311: 257-264. Pubmed
  • Vanoevelen JM, van Erven B, Bierau J, Huang X, Berry GT, Vos R, Coelho AI, Rubio-Gozalbo ME
    Impaired fertility and motor function in a zebrafish model for classic galactosemia. J Inherit Metab Dis. 2018;41(1): 117-127. Pubmed
  • Gerards M, Kamps R, Vanoevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.
    Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain. 2013; 136: 882-90. Pubmed.
  • Vanoevelen J, Janssens A, Huitema LF, Hammond CL, Metz JR, Flik G, Voets T, Schulte-Merker S.
    Trpv5/6 is vital for epithelial calcium uptake and bone formation. FASEB J. 2011; 25(9): 3197-207. Pubmed 
  • Baron S, Vangheluwe P, Sepúlveda MR, Wuytack F, Raeymaekers L, Vanoevelen J.
    The secretory pathway Ca2+-ATPase 1 is associated with cholesterol-rich microdomains of human colon adenocarcinoma cells. Biochim Biophys Acta. 2010; 1798(8): 1512-21. Pubmed 
  • Vangheluwe P, Sepúlveda MR, Missiaen L, Raeymaekers L, Wuytack F, Vanoevelen J.
    Intracellular Ca2+- and Mn2+-transport ATPases. Chem Rev. 2009; 109(10): 4733-59. Pubmed 
  • Vanoevelen J, Dode L, Van Baelen K, Fairclough RJ, Missiaen L, Raeymaekers L, Wuytack F.
    The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump with high affinity for Ca2+ ions. J Biol Chem. 2005; 280(24): 22800-8. Pubmed 


  • FP7-HEALTH-2013-INNOVATION-1: Probing The Role Of Sodium Channels In Painful Neuropathies (ProPaNe)
  • MetaKids


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