The section Genetics of the Center for Molecular Medicine uses genomics and bioinformatics approaches to understand the genetic basis of disease. Expertise and state-of-the-art infrastructure is available for next-generation DNA sequencing, single molecule sequencing, genotyping, metabolomics, bioinformatics and a broad range of model systems, including patient-derived primary cultures, iPS cells and organoid culturing.
Researchers in the section aim to identify and molecularly characterise novel disease driving mechanisms and focus on congenital disease, cilliary disorders, metabolic disorders, epilepsy, complex syndromal disorders and cancer. The section consists of nine pre-clinical and clinical research groups, which are strongly embedded within the UMC Utrecht priority programs Child Health, Brain, and Personalized Cancer Care.
Genetics research coordinator uitklapper, klik om te openen
Dr. Gijs van Haaften
The last five years Gijs has established his own research group working on the genetics and biology of orphan diseases with a focus on metabolic disorders.
Oncogenetica uitklapper, klik om te openen
- Group Ausems
Both the FOCUS and DISCOVER study focus on mainstream genetic testing pathways for cancer patients. The FOCUS study consists of two studies, one for ovarian cancer and one for breast cancer. The DISCOVER study focuses on prostate cancer. In a mainstream genetic testing pathway, genetic testing is discussed and ordered by the healthcare professional (gynecologist, surgeon, urologist, oncologist, nurse specialist) who is treating the patient, rather than by a clinical geneticist or genetic counselor.
Group Jongmans
About 10% of all children with cancer have a hereditary predisposition to cancer. My research focuses on improving recognition of predisposition to childhood cancer and improving care for these children.
Neurogenetica uitklapper, klik om te openen
- Group Brilstra and Koeleman
We focus on the genetic causes of monogenic and common forms of epilepsy. An important aim of our studies is to translate genetic findings to clinical relevance.
Group Oegema
The recently established group led by Renske Oegema focuses on neurodevelopmental disorders, especially brain malformations, epilepsy and the role of epigenetic mechanisms in the brain.
Cardiogenetica uitklapper, klik om te openen
Group Tintelen Baas
Nefrogenetica uitklapper, klik om te openen
Group van Eerde
Orphan diseases uitklapper, klik om te openen
Group van Haaften
The research group works on the genetics and biology of orphan diseases. We use the latest sequencing technology to identify the causal mutations in rare genetic disorders.
Group Ploos van Amstel
Group v.d. Boogaard
Metabolic diseases uitklapper, klik om te openen
- Group Verhoeven/Jans
The research in our group, dedicated to discovering novel metabolic diseases and their pathophysiology, is focused more specifically on diseases related to vitamin B6 metabolism, the malate aspartate shuttle, NAD and hereditary anemias. We develop novel mass spectrometry-based technologies and bioinformatics tools to improve our understanding of these rare disorders.
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