Roberto Colombo

# CURRENT CLINICAL RESEARCH INTERESTS: • Ultra-rare hereditary diseases of unknown genetic cause • Non-syndromic developmental delay (DD) and/or intellectual disability (ID) linked to dysfunctional genomic variants • Non-syndromic deafness and its genetic causes • Clinical genetics of male and female infertility • Ethical questions in genetic counseling # CURRENT HUMAN GENETICS RESEARCH INTERESTS: • Genetic epidemiology of rare hereditary diseases • Origin and history of hereditary diseases in isolated populations. Founder effect. • Statistical-genetic methods for inferring the age of a disease-causing mutation # INTERNATIONAL COLLABORATIONS: Collaborative projects based on shared research interests are most welcome and immediate priority will be given to urgent or high-impact studies