Francesco Brancati is Professor of Medical Genetics at the University of L’Aquila. He heads the Medical Genetics Unit of the San Salvatore Hospital in L’Aquila. After receiving the degree in Medicine and the Residency in Medical Genetics, he obtained a PhD in Medical Genetics. The research activity is mainly focused at uncovering the molecular bases of human genetic disorders, with special interest in disorders of the central nervous system, skin, joints and skeleton. Specific areas of interest includes the functional characterization of rare variants in the pathogenesis of monogenic and complex disorders.