Physician-researcher doctoral network MENTOR

As a physician-researcher you will contribute to the doctoral network MENTOR (MSCA MENTOR Doctoral Network - MENTOR - Metabolic control of cell growth by mTOR in health and disease: a multi-disciplinary training)

The multi-disciplinary training network MENTOR focuses on the mTOR (mammalian/mechanistic Target Of Rapamycin) network, a central signaling hub that integrates, nutritional cues and controls cell growth and metabolism.

Aberrant mTOR activity underlies a wide range of pathologies, including age-related diseases with high incidence such as cancer, obesity, and diabetes as well as rare genetic conditions, termed mTORopathies, characterized by tumor formation, polycystic kidneys, and brain manifestations.

New mechanistic insights into mTORopathies will improve treatment for people living with rare conditions through strategies of personalized medicine and will open new therapeutic avenues for severe age-related pathologies.

MSCA-DN MENTOR program will involve 18 doctoral candidates with the overall goal of understanding and treating mTORopathies while maximizing the impact towards research and training for cancer, metabolic syndromes, and age-related diseases.

Within MENTOR your project in the UMC Utrecht will focus on association of metabolic markers and neurological manifestations in patients with mTOR pathway related epilepsy.

We will focus on two genetic conditions: tuberous sclerosis complex (TSC) with TSC1 or TSC2 gene variants and GATOR 1 epilepsy with DEPDC5, NPRL2, and NPRL3 gene variants. The main objective is to improve our understanding of altered metabolism in TSC or GATOR1 epilepsy patients and the interplay between altered metabolism, mTORC1 and clinical manifestation. The ultimate goal is to identify novel targets and approaches for therapeutic intervention. Specifically, this project will assess blood amino acid levels and glucose after fasting in patients with TSC or GATOR1 epilepsy and associate alterations with neurological manifestations assisted by magnetic resonance spectroscopy. We will investigate amino acids and glucose levels in TSC patients under ketogenic diet or mTOR inhibitor treatment and study the relations with efficacy, tolerance and response to treatment. Finally, we will identify possible targets for nutritional interventions and conduct a proof-of-principle n of 1 trial.

• Master degree in Medicine.
• Commitment to work in the proposed research field with good communication skills, flexibility and enthusiasm.
• Proficiency in Dutch and English, sufficient understanding, reading and writing skills of Dutch language.

Do you recognize yourself in the above points and does the vacancy appeal to you? Then we look forward to receiving your application. Do NOT apply via the blue apply button on this website, but via the MENTOR website. The application process will be facilitated through the MENTOR website with the deadline for submission set for March 28, 2025. Please read the mobility requirements.

Selection will take place in April 2025.

The UMC Utrecht is an NFU endorsed national referral centre for rare and complex epilepsies and epilepsy surgery, and a full member of the European Reference Network EpiCARE. The Epilepsy Research Group focuses on personalized diagnosis, treatment and outcome prediction for epilepsy patients, including TSC and GATOR1-related epilepsy. Within this focus area we not only develop novel gene therapies, using experimental advanced lab techniques, but also investigate how genetic background impacts disease courses as well as implement novel trial designs, e.g. N-of-1 therapies, to address the value of targeted treatments, including mTOR inhibitors for patients with GATOR1-related epilepsy. We have well-established and successful collaborations with departments of neonatology, neurosurgery, radiology and neuropathology as well as clinicians and researchers in SEIN (Stichting Epilepsie Instellingen Nederland), other UMCs, and a large number of centra and consortia in Europe and beyond (EpiCARE, U-TASK, GOSH/UCL London, MOTOL Prague, University Hospitals Lyon, and the ILAE-consortium on common epilepsy, EpiPGX consortium).

Contact our colleague:
Floor Jansen
088 75 543 41
F.E.Jansen@umcutrecht.nl