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

Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation Gautam Kok, Imre F Schene, Eveline F Ilcken, Paula Sobrevals Alcaraz, Marisa I Mendes, Desiree E C Smith, Gajja Salomons, Sawsan Shehata, Judith J M Jans, Reza Maroofian, Tim A Hoek, Robert M van Es, Holger Rehmann, Edward E S Nieuwenhuis, Harmjan R Vos, Sabine A Fuchs
Nucleic acids research, 2024, vol. 53
mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes Susan Zwakenberg, Denise Westland, Robert M. van Es, Holger Rehmann, Jasper Anink, Jolita Ciapaite, Marjolein Bosma, Ellen Stelloo, Nalan Liv, Paula Sobrevals Alcaraz, Nanda M. Verhoeven-Duif, Judith J.M. Jans, Harmjan R. Vos, Eleonora Aronica, Fried J.T. Zwartkruis
Molecular Cell, 2024, vol. 84, p.4368-4384.e6
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases Clara D.M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J.M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Orphanet Journal of Rare Diseases, 2024, vol. 19
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
Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease Myrthe J van Dijk, Titine J J Ruiter, Sigrid van der Veen, Minke A E Rab, Brigitte A van Oirschot, Jennifer Bos, Cleo Derichs, Anita W Rijneveld, Marjon H Cnossen, Erfan Nur, Bart J Biemond, Marije Bartels, Roger E G Schutgens, Wouter W van Solinge, Judith J M Jans, Eduard J van Beers, Richard van Wijk
Hemasphere, 2024, vol. 8
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