Profile photo Judith Jans

Judith Jans

Associate Professor

Strategic program(s):

Biography

Judith Jans is a laboratory specialist in Clinical Genetics, specializing in diagnostics of inborn errors of metabolism. She is associate professor at the section Metabolic Diagnostics at the Department of Genetics at the Wilhelmina Children’s Hospital. Her research interests include the elucidation of novel genetic metabolic diseases, with a specific interest in developing untargeted metabolomics to aid in this process. Recent work has focused on the introduction of untargeted metabolomics in diagnostics and fully integrating genomics and metabolomics data to improve patient care.

Research groups

Clinical metabolomics and metabolic diagnostics

Research aim

Our research, focusing on metabolic disturbances, aims to improve diagnostics, to enable treatments, and to contribute to the development of novel therapies. The impact extends from individual patient care to a broader understanding of human disease.

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Recent publications

Inborn errors of the malate aspartate shuttle – Update on patients and cellular models Jasmine Koch, Melissa H. Broeks, Matthias Gautschi, Judith Jans, Alexander Laemmle
Molecular Genetics and Metabolism, 2024, vol. 142
Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes Nils W F Meijer, Susan Zwakenberg, Johan Gerrits, Denise Westland, Arif I Ardisasmita, Sabine A Fuchs, Nanda M Verhoeven-Duif, Judith J M Jans, Fried J T Zwartkruis
Metabolites, 2024, vol. 14
A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease Myrthe J van Dijk, Marissa J M Traets, Brigitte A van Oirschot, Titine J J Ruiter, Jonathan R A de Wilde, Jennifer Bos, Wouter W van Solinge, Margaret J Koziel, Judith J M Jans, Revati Wani, Eduard J van Beers, Richard van Wijk, Minke A E Rab
EJHaem, 2024, vol. 5, p.21-32
The malate-aspartate shuttle is important for de novo serine biosynthesis Melissa H Broeks, Nils W F Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M German, Jolita Ciapaite, Clara D M van Karnebeek, Ronald J A Wanders, Fried J T Zwartkruis, Nanda M Verhoeven-Duif, Judith J M Jans
Cell Reports, 2023, vol. 42, p.1-18
Metabolic Alterations in NADSYN1-Deficient Cells Nils W F Meijer, Johan Gerrits, Susan Zwakenberg, Fried J T Zwartkruis, Nanda M Verhoeven-Duif, Judith J M Jans
Metabolites, 2023, vol. 13
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants Mark Jansen, Maike Schuldt, Beau O van Driel, Amand F Schmidt, Imke Christiaans, Saskia N van der Crabben, Yvonne M Hoedemaekers, Dennis Dooijes, Jan D H Jongbloed, Ludolf G Boven, Ronald H Lekanne Deprez, Arthur A M Wilde, Judith J M Jans, Jolanda van der Velden, Rudolf A de Boer, J Peter van Tintelen, Folkert W Asselbergs, Annette F Baas
International journal of molecular sciences, 2023, vol. 24