prof. dr. Tjitske Kleefstra

About Tjitske Kleefstra

•  I have always been driven by the aim to form the bridge between fundamental research and the patients. This is reflected by my graduation in both medical biology and medicine, and by my interdisciplinary research collaborations ranging from clinical studies to research focusing on fundamental insights into monogenetic neurodevelopmental disorders.
• We want to translate new knowledge of disorder causation into better care for patients and their families, as the implementation of tailored intervention for rare syndromes is the highly mandatory next step that should be taken after genetic diagnosis.
• Therefore, we established the multidisciplinary Radboudumc expert center for rare genetic neurodevelopmental disorders and broadened the scope of our research into “Genes&Behavior” to continue research from syndrome discovery to development of etiology-based strategies for precision management/therapy. We believe the genetic mutations we identify and study, result in a lifelong brain vulnarability in the affected patients. Therefore our aim is to characterize the natural histories and follow the patients and their families carefully in multidisciplinary teams involving experts in clinical neuropsychology and psychiatry. One of our lines focusses on understanding psychopathology underlying severe behavioral regression in patients with Kleefstra syndrome. This provides a template for studying other Mendelian syndromes by an integrative, multidisciplinary approach