He trained in Europe and the United States in Pediatrics, Pediatric Cardiology, and Medical Genetics, with further subspecialty training in Biochemical Genetics. He trained in and practiced epidemiology and public health at the US Centers for Disease Control and Prevention (EIS and preventive medicine program) for over a decade. In the clinic Dr Botto focuses in particular on three areas: (a) diagnosis and care of people with undiagnosed or rare conditions; (b) skeletal dysplasias (genetic disorders of the bone), (c) inherited metabolic diseases (particularly those that affect the brain, the heart, and the production of energy).