Marzia Pasquali, PhD, FACMG Professor of Pathology, University of Utah School of Medicine Medical Director, Biochemical Genetics and Newborn Screening, ARUP Laboratories

12 Mar 2026
Biochemical Genetics
Dr. Pasquali is a professor of Pathology at the University of Utah School of Medicine, and Medical Director of Biochemical Genetics and Newborn Screening at ARUP Laboratories. Dr. Pasquali earned her degrees of doctor in pharmaceutical chemistry and technology and pharmacy doctor at the University of Parma School of Pharmacy in Italy. She trained in clinical biochemical genetics at Emory University, in Atlanta, Georgia where later served as the co-director of the Biochemical Genetics Laboratory. Dr. Pasquali is board certified by the ABMGG in Clinical Biochemical Genetics. She is a member of the Society for Inherited Metabolic Disorders, the American College of Medical Genetics and Genomics, and several other professional societies. Her research interests are newborn screening, disorders of carnitine and creatine metabolism and transport, and lysosomal storage disorders.