Lisenka Vissers

16:45 - 17:10 "From phenotype to AI-based phenomics to diagnose rare disease."

Lisenka Vissers is appointed as professor of Translational Genomics at the department of Human Genetics at the Radboudumc in Nijmegen, The Netherlands. She performs her research to work at the crossroads of cutting-edge science, genetic diagnostic testing, as well as tertiary level clinical care. Her work focusses on the elucidation of the genetic etiology of rare disease, and neurodevelopmental disorders in particular. To achieve this, she performs clinical utility studies with the latest technological innovations on longitudinal patient cohorts collected over more than 20 years. The lessons learned are subsequently translated to their use in every day clinical practice, allowing to benefit all patients with rare disease. Examples include the translation of genomic microarrays, exomes and genomes into routine genetic diagnostic care, which in parallel has also resulted in the elucidation of more than 85 novel disease-gene associations.