Lorenzo Botto, MD, is a professor of Pediatrics at the University of Utah School of Medicine. He is a clinician and epidemiologist. 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 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). As an epidemiologist Dr Botto leads the International Center on Birth Defects to support monitoring and primary prevention of congenital anomalies, with particular focus on middle and low income countries. He serves as the current chair of the Utah Rare Disease Advisory Council (RDAC), which provides a voice for the clinical and public health needs and concerns of the community with rare undiagnosed diseases in the state.