The research section of the Department of Genetics 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, zebrafish and organoid culturing.
Researchers in the section aim to identify and molecularly characterise novel disease-driving mechanisms and focus on orphan diseases, cardiogenetics, neurogenetics, nephrogenetics, congenital disease, metabolic disease, complex syndromal disorders, and cancer. Our research section consists of six pre-clinical and clinical research groups, which are strongly embedded within the UMC Utrecht strategic teams: Child Health, Brain Center, Circulatory Health, and Cancer.
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.
Oncogenetics 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.
Neurogenetics 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.
Cardiogenetics uitklapper, klik om te openen
Group Tintelen Baas
Nefrogenetics uitklapper, klik om te openen
Group van Eerde
As part of the Centre of expertise on hereditary and congenital kidney disease and urinary tract anomalies, the Nephrogenetics group of the Department of Genetics in the UMC Utrecht contributes to new developments by conducting basal scientific, translational, and clinical research in the field of inherited kidney diseases.
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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