Katarína Skalická is the Head of the Clinical and Molecular Genetics Laboratory at the Children's Clinic of LFUK and NÚDCH, as well as the Editor-in-Chief and Founder of the journal Medical Genetics and Diagnostics. She is also the Vice Chair of the Working Group for Medical Genomics, a member of the Expert Society for Rare Diseases, and a member of the European Reference Network for Rare Eye Diseases (ERN-EYE) and the Working Group for Skeletal Dysplasias OSTEOPED. Her expertise and leadership in the field of genetic diagnostics and rare diseases position her as one of the leading experts in this area.