Doctor of Medicine and Surgery from the Autonomous University of Barcelona. Specialist in General and Digestive Surgery, with accreditation in Human Genetics by the Spanish Society of Human Genetics. Clinical Director of the Metropolitan North Clinical Laboratory and Head of the Genetics Department at Germans Trias i Pujol Hospital. Coordinator of the National Reference Center for Adult Patients with Facomatosis (CSUR) and National Coordinator of the European Reference Network GENTURIS for tumor predisposition. Member of the Advisory Committee for the Common Portfolio of Services in the Field of Genetics at the Ministry of Health, and member of the Advisory Committee on Rare Diseases at the Department of Health of Catalonia. As a medical geneticist, my clinical work focuses on the identification and management of individuals and families with genetic disorders, with special emphasis on neurofibromatosis. I lead competitive national and international research projects and have authored or co-authored over 200 articles in indexed journals (H-Index 50; over 11,366 citations). [ORCID: https://orcid.org/0000-0002-7414-7481] Since 2012, I have also served as an Associate Professor at the School of Health Sciences and the Department of Health at TecnoCampus.