Dr. Tiziano Pramparo is the director of genetic epidemiology at Travere Therapeutics in the Research and Development group. His role is to strategize the incorporation of genetic information, its analysis, and clinical genomics in pre-clinical and clinical programs. He received his doctoral degree in human genetics from the University of Pavia (Italy). His postdoctoral work involved multidisciplinary training in molecular and cell biology, animal modeling, high-throughput screening, and computational biology useful in illuminating systems-level mechanisms. His studies aimed to develop and refine approaches that helped the early identification/diagnosis of different human conditions, with particular emphasis on disorders with a developmental origin. Currently, his research focus is to apply state-of-the art genetics tools and knowledge to determine prevalence/incidence of rare diseases, and geographical distribution of patients with inborn errors of metabolism. Moreover, he investigates how rare variants may be associated with clinical features and aims to identify biomarkers useful in the diagnostic screening and longitudinal monitoring of disease.