The focus of our working group is the elucidation of genetic causes and pathomechanisms of intellectual disability and neurodevelopmental disorders (NDD) with and without epilepsy. Intellectual disability affects approx. 2 percent of the population, and the overwhelming majority is due to genetic variants. Modern diagnostics, including karyotyping, array analysis, gene panel and exome sequencing yield diagnoses in more than half of the cases. Still, the underlying causes of the remainder remain unknown. We perform whole exome sequencing (often of parent-offspring trios or affected siblings) of individuals with NDD. Definite diagnoses are reported back to the referring physicians. Findings in still not described, but potential NDD genes (so called candidate genes, see our full list (Excel; PDF)) are followed on by a detailed clinical phenotyping, recruiting further comparable cases or joining ongoing international efforts, and eventually by functional analyses to prove pathogenicity and/or understand the underlying pathomechanisms.
