Phd for Congenital Myasthenic Syndrome (CMS22) and Prader-Willi Syndrome (PWS) (ref. BAP-2026-481)

Employer

Laboratory for Biochemical Neuroendocrinology, University of Leuven, Leuven, Belgium

Description

This position is available in the Laboratory of Biochemical Neuroendocrinology, within the Department of Human Genetics, at KU Leuven.
The project is supervised by Prof. John Creemers and Prof. Anne Rochtus

Unit website

Project
Inactivation of the Prolyl Endopeptidase-Like (PREPL) gene on chromosome 2p21 causes a recessive metabolic syndrome named Congenital Myasthenic Syndrome 22 (CMS22). 
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 CMS22 patients can be rescued by overexpressing 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. 

Profile

• 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.

Offer

• 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 of 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. 

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