PhD candidate in translation of genetics to improve care for childhood epilepsy

Most people with epilepsy have a presumed underlying genetic cause, but genetics is currently rarely used to diagnose or classify epilepsy in routine clinical care. The project you will work on aims to translate recent groundbreaking findings on the genetics of epilepsy into faster diagnosis, prediction of epilepsy subtype and severity, to result in precision therapy targeted at the cause of the disease.

This involves:

• Calculating polygenic risk scores (PRS) to quantify genetic burden of epilepsy risk variants.
• Devise novel ways to combine common and rare genetic variants in a PRS.
• Performing genome-wide association studies (GWAS), using genomic data from >50.000 patients.
• Testing real-world applicability of PRS to improve epilepsy diagnosis and prognosis after a first seizure.

Locally, you will work closely with a small team, provide guidance to other members, and supervise students. Your project is integrated into the MING project, where you will collaborate with a team of clinical researchers, bioinformaticians and statisticians in the departments of (Child) Neurology and Genetics. Internationally, your work will be embedded within the largest international epilepsy genetics consortium, comprising >300 researchers worldwide.

The maximum salary for this position (36 - 36 hours) is € 3.824,00 gross per month based on full-time employment.

In addition, we offer an annual benefit of 8.3%, holiday allowance, travel expenses and career opportunities. The terms of employment are in accordance with the Cao University Medical Centers (UMC).

The research section of the Department of Genetics currently consists of three full-time PI’s that lead their genetic research groups. It also connects several clinical researchers that are part of the clinical genetics section. The Department of Genetics is part of the UMC Utrecht and provides clinical genetic care (genetic counseling), genome and metabolic diagnostics, bioinformatics and experimental and clinical research. The Genetics department of the UMC Utrecht is part of the Laboratory, Pharmacy and Biomedical Genetics division and has more than 250 employees. Our department strives to play a leading role nationally and internationally in the field of genetics and molecular biology.

With more than 12,000 employees, UMC Utrecht is one of the largest public healthcare institutions in the Netherlands and the largest employer in the Utrecht region.

Together we work to improve people's health and create the healthcare of tomorrow. Our location at the Science Park in Utrecht means that the Hubrecht Institute, the Princess Máxima Center (PMC) and the National Institute for Public Health and the Environment (RIVM) are close by.