Phd for Congenital Myasthenic Syndrome (CMS22) and Prader-Willi Syndrome (PWS

Organisation/Company KU LEUVEN Research Field Biological sciences » Biology Researcher Profile First Stage Researcher (R1) Final date to receive applications 31 Aug 2026 - 23:59 (UTC) Country Belgium Type of Contract Temporary Job Status Full-time Offer Starting Date 1 Oct 2026 Is the job funded through the EU Research Framework Programme? Not funded by a EU programme Reference Number BAP
- Is the Job related to staff position within a Research Infrastructure? No

Inactivation of the Prolyl Endopeptidase-Like (PREPL) gene on chromosome 2p21 causes a recessive metabolic syndrome named Congenital Myasthenic Syndrome 22 (CMS
22).The syndrome is characterized by severe neonatal hypotonia, feeding problems and failure to thrive in early childhood followed by hyperphagia and excessive weight gain during the teenage years.

Furthermore, growth retardation is observed due to growth hormone (GH) deficiency. Prader-Willi syndrome (PWS) is caused by the lack of expression of multiple genes on the paternally inherited chromosome by imprinting defects on the chromosome 15q11-13 region, and has strikingly similar phenotypes.

This raises the possibility that overlapping pathways are affected. We have recently shown that the mitochondrial phenotype in fibroblasts derived from both PWS and CMS
22 patients can be rescued by over expressing PREPL, providing the first evidence for this hypothesis.

Specific tasks for the PhD position are:
Building on data obtained during previous PhD projects on the topic, you will use various molecular cell biological, biochemical, gene transfer, microscopical, and omics approaches in cell cultures and mouse models to identify affected pathways and substrates.

We offer a full-time fully funded PhD position for 4 years after a positive initial evaluation. You will also be encouraged to apply for other mandate funding. The position will be based at KU Leuven, where you will be enrolled in the Doctorate School of Biomedical Sciences. You will be working in a dynamic and stimulating scientific environment together with a small but enthusiastic team under the lead of a basic researcher (Prof.

John Creemers) in close collaboration with a pediatric neuroendocrinologist (Prof. Anne Rochtus) at a top-ranked university, in a laboratory with a established international network. You will receive a competitive salary in accordance with the KU Leuven scales for PhD students. You will have the opportunity to participate in national and international meetings, and to visit other research groups for scientific training or networking, if applicable.

• Excellent candidate with a master in biomedical sciences or a related discipline with an interest in rare congenital diseases.
• A strong academic track record from bachelor and master.
• Highly motivated candidate, interested in basic and translational research, hard worker with a creative mind, able to work in an interdisciplinary research team.
• Excellent communication skills in spoken and written English.
• The candidate is able to work independently, with an open communication style, a problem-solving attitude, critical mind set and is proactive and result-driven.