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- Research interest:We have decades of expertise in the discovery of novel genetic intellectual disability and autism . disorders. For some of these disorders, we have performed deep-phenotyping in large patient cohorts. In addition, we have studied a subset of these disorders in depth, including the fragile X syndrome with the aim of developing therapies for the patients. In these studies, we rely heavily on mouse models. We have studied many biochemical, electrophysiological and behavioral aspects of different animal models. In the fragile X syndrome, we have discovered that the inhibitory GABAergic neurons are compromised. Subsequently, we have corrected several of the abnormalities observed in disease animal models by adding drugs that interfere with the affected pathways. In the fragile X syndrome, our findings have led to the initiation of clinical trials in which we participated.
- Keywords:MOUSE MODELS, HEREDITARY, GENOTYPE-PHENOTYPE CORRELATION, GENETIC DISEASE, GENE IDENTIFICATION, Biomedical sciences (incl. biochemistry)
- Disciplines:Biomechanical engineering, Medical biotechnology, Other (bio)medical engineering, Geomatic engineering, Product development, Safety engineering, Other engineering and technology, Anaesthesiology, Bioinformatics and computational biology, Biomechanics, Biophysics, Cardiac and vascular medicine, Dermatology, Diagnostics, Endocrinology and metabolic diseases, Gastro-enterology and hepatology, Gerontology and geriatrics, Gynaecology and obstetrics, Hematology, Immunology, Intensive care and emergency medicine, Laboratory medicine, Medical biochemistry and metabolism, Medical imaging and therapy, Medical systems biology, Microbiology, Molecular and cell biology, Morphological sciences, Neurosciences, Oncology, Ophthalmology and optometry, Orthopaedics, Otorhinolaryngology, Palliative care and end-of-life care, Pediatrics and neonatology, Physiology, Psychiatry and psychotherapy, Regenerative medicine, Respiratory medicine, Surgery, Tropical medicine, Urology and nephrology, Other basic sciences, Other translational sciences, Other medical and health sciences, Cognitive neuroscience
- Research techniques:Next generation sequencing, real-time PCR, bioinformatic analysis, variant interpretation
- Users of research expertise:Any firm or organisation involved in any way in rare genetic disorders.