Borut Peterlin is a clinical geneticist and neurologist, head of the Clinical Institute of Genomic Medicine, University Medical Center Ljubljana. He is a professor of Human Genetics at the Medical faculty in Ljubljana and visiting professor at the Medical faculties in Beograd, Rijeka and Osijek. He is board member and past president of the European Society of Human Genetics and Chair of the Professional Committee of the Slovenian Association for Medical Genetics. His research interests are discovering new genes and mechanisms of human disorders and implementing novel genomic technologies in rare diseases, public health and personalized medicine in health systems.