Department of Genetics - PhD Chromatinopathies

Do you want to combine clinical genetics with cutting-edge functional genomics? Join the Department of Genetics as a PhD candidate to study how patient DNA variants in chromatin regulators drive neurodevelopmental disease.

Chromatinopathies (CPs) are Mendelian disorders caused by mutations in chromatin regulators and often present with neurodevelopmental delay and intellectual disability. While many CPs have distinct clinical features, subsets show overlapping phenotypes and cluster into molecular groups. We hypothesize that within these subgroups, different CPs converge on common defects in chromatin state, 3D genome organization, and transcriptional programs, revealing shared biological vulnerabilities and potential future therapeutic entry points.

This PhD project is jointly supervised by Dr. Renske Oegema (clinical geneticist) and Dr. Peter Krijger (molecular biologist). The two research PIs combine expertise in clinical genetics and access to well-characterized patient cohorts with mechanistic gene regulation and functional genomics. You will model patient variants in chromatin regulators using genome editing and cellular disease models and apply chromatin and 3D genome profiling to determine how these variants disrupt chromatin state, genome folding, and transcription.

• Identifying chromatin regulators and pathways recurrently affected in developmental and neuropediatric disorders using patient-derived genetics and clinical data.
• Defining the molecular consequences of disruption on chromatin organization, 3D genome folding, and gene expression.
• Establishing unbiased screens to functionally test chromatin-protein variants in parallel.
• Linking molecular changes to disease-relevant cellular phenotypes to support diagnosis and lay the groundwork for future therapeutic studies.

You will join the Research Section of the Department of Genetics (UMC Utrecht), embedded in a dynamic translational setting with close ties to the Wilhelmina Children’s Hospital (WKZ) and Center for Molecular Medicine (CMM). Our location at the Utrecht Science Park enables extensive interactions and joint projects with neighboring institutes.

• You hold an MSc degree in biomedical sciences or related disciplines.
• You are enthusiastic to translate patient-derived genetic findings into mechanistic insight and help bridge discoveries from the lab back to patient care.
• You have hands-on experience in molecular biology and cell culture. Experience with bioinformatic analyses is a plus but not required.
• You can work independently and take ownership of your project and collaborate effectively in multidisciplinary teams through clear communication and a constructive mindset.