Clinical genetics

Background information

We use state of the art methods for studying hereditary monogenic and polygenic disorders. Next Generation Sequencing and functional studies play an important role in the unraveling of the diseases. For the functional genetics in vitro as well as in vivo models are used. We follow the most recent developments like the use of induced pluripotent stem cells (so-called iPS-cells) from isolated skin cells of patients. Widely applied animal models for the functional research are genetically modified mice and zebrafish. The functional work is performed in close cooperation with the Functional Unit of the Diagnostic section.

Overall aim

The overall aim is to understand the function of our genome and to identify causes of metabolic diseases, cancer, neurodevelopmental disorders, cardiovascular disorders and congenital malformations.

Research focus areas

The department Clinical Genetics performs innovative and high quality scientific research with a focus on three cornerstones:

1. Neurogenetics.
2. Genetics of congenital anomalies.
3. Genetics of cardiovascular disorders.

Additional research lines include:

• Human cancers (uveal melanoma).
• Lynch Syndrome.
• Breast cancer.
• Psychological aspects of prenatal genetic testing.
• Non Invasive Prenatal Testing (NIPT).

 

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  Y. (Ype) Elgersma, Professor

  Principle Investigator, Vice-chair and sector head of Research of the dept. of Clinical Genetics

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  A. (Anja) Wagner, MD, PhD

  Principal Investigator

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  T.S. (Stefan) Barakat, MD PhD

  Researcher

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  S. (Sam) Riedijk, PhD

  Medical psychologist, assistant professor

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  V.J.M. (Virginie) Verhoeven, MD, PhD

  Clinical geneticist; principal investigator

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  M.I. (Gosia) Srebniak, PhD

  Principal Investigator

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  V.B. (Vincenzo) Bonifati, Professor, MD, PhD

  Principal Investigator

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  A.C.M. (Annelot) van Esbroeck, PhD

  Assistant Professor

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  K. (Kristina) Lanko, PhD

  Assistant professor

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  E. (Erwin) Brosens, PhD

  Assistant professor, Principal investigator, Program manager

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  A.J. (Atze) Bergsma, PhD

  Senior researcher, assistant professor

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  D. (Dmitrijs) Rots, MD, PhD

  Postdoc and laboratory specialist clinical genetics

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  V. (Vyne) van der Schoot, MD

  Principle Investigator

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  T. (Tjitske) Kleefstra, Professor, MD

  Department Head and professor Clinical Genetics

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  W. (Wim) Mandemakers, PhD

  Assistant Professor