Gijs Santen is professor and department head of Clinical Genetics at LUMC. He is coordinator of the expertise center for congenital anomalies and intellectual disability.

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Gijs Santen is professor and department head of Clinical Genetics at LUMC. He is coordinator of the expertise center for congenital anomalies and intellectual disability.

Clinical Genetics

Clinical Genetics focuses on identifying genetic causes of mostly rare disorders, communicating findings and related advice to the patient in a way that enables the patient to use this knowledge, and conducting research in this field.

An important focus of the chair is the development and implementation of new techniques in genetic diagnostics, such as in recent years the implementation of exome sequencing for pregnancies in which an ultrasound abnormality is detected. This involves not only technical aspects such as diagnostic yield, but also patient experience.

A second area of focus involves translational research in the field of genetic causes of developmental disorders, particularly Coffin-Siris syndrome. This research ranges from discovering causal mechanisms, through describing the characteristics of the syndrome with the aim of providing better patient information, to conducting clinical studies to improve treatment. This research naturally takes place in a multidisciplinary context, for example within the ProMiSe consortium that arose from an NWA-ORC grant, which fits within the Personalized Medicine route.

Academic career

Gijs Santen studied Biopharmaceutical Sciences and Medicine at Leiden University. He received his PhD from Prof. Meindert Danhof of the Leiden Academic Center for Drug Research on Sept. 10, 2008, with the thesis ‘To fail or not to fail: clinical trials in depression’. After his clinical rotations, he started training as a Clinical Geneticist in 2011, which he completed in 2016.

In 2013, he was awarded the Gisela Thier fellowship with which he conducted research on Coffin-Siris syndrome. In addition, over the years he and his team have engaged in implementation of new techniques in diagnostics, such as exome sequencing for pregnancies with congenital anomalies. On January 1, 2023, he was appointed Head of Department of Clinical Genetics, on June 1, 2024, Professor of Clinical Genetics, and he is expected to deliver his inaugural lecture in the course of 2025.

Publications