17 September 2020

Tjitske Kleefstra has been appointed endowed professor of Clinical genetics and psychopathology of rare syndromes at the department of Neurodevelopmental disorders, with effect from 1 September.

Tjitske Kleefstra is a clinical geneticist at the Department of Genetics of the Radboudumc. Her special teaching assignment, set up by the Vincent van Gogh Centre for Neuropsychiatry in Venray, aims to develop customized care for genetic developmental disorders. It builds on the collaboration between Genetics and Psychopathology that both centers started more than ten years ago.

In this partnership Kleefstra focuses on scientific research, top referral patient care and education in the field of developmental disorders due to a genetic cause. In this way genetic knowledge can be integrated with neurobiological and neurocognitive information. She will use this integrated knowledge to shape individualized treatment and guidance of psychopathology in patients with developmental disorders (personalised healthcare).

Kleefstra wants to bridge the gap between research and clinic for optimal patient care. Due to the rapid developments in genetics, integration of knowledge and multidisciplinary and interdisciplinary collaboration is essential. In addition to finding new genetic causes and mapping out the clinical characteristics of syndromes, patient care is ready for the next step: a more personalized treatment. Parents and caregivers have a great need for knowledge about behavior and psychopathology in genetic syndromes. This requires more integration of expert care for genetic syndromes.

The 'Kleefstra syndrome', named after Tjitske Kleefstra herself, is a model for an interdisciplinary approach and has led to various (inter)national collaborations that contribute to person-centered care. To emphasize the importance of genetic diagnosis for rare syndromes, she and her colleagues have set up the 'Center of Expertise for rare congenital developmental disorders': www.radboudumc.nl/ontwikkelingsstoornissen. Several (medical) specialists work closely together in the follow-up of hereditary developmental disorders. Patients (children and adults) with known syndromes, including the Kleefstra syndrome, in particular, are seen here for expertise care. The expertise center is accredited by the Ministry of Health, Welfare and Sport and is part of the European Reference Network ITAHCA. Through the TOPGG-recognized Vincent van Gogh Centre for Neuropsychiatry and the chair Contextual Neuropsychology within the Donders Centre for Cognition (Prof. Dr. Jos Egger) there is knowledge and expertise on neurocognition and behavior in order to implement the care line genetic-psychopathology in the clinical care of the Radboudumc.

In addition to prestigious awards from Dutch and European associations in Human Genetics, Tjitske Kleefstra received important grants, including personal grants from ZonMw (AGIKO, Clinical Fellowship and VIDI) and an NWA grant (2019 in consortium).

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