Connect Sign InDiagnostic Approaches to Rare Genetic Disorders
Inborn errors of metabolism (IEMs) are genetic disorders characterized by a perturbation in a metabolic pathway. Many IEMs can be treated with dietary modifications, pharmacologic supplements, and other therapies. The treatment is more effective when initiated early, before any organ or cell damage has occurred. The prompt diagnosis of IEMs is, therefore, critical to a good outcome. Newborn screening is very successful in identifying infants at birth with known IEMs. Advances in technology and scientific discoveries have broadened the group of rare disorders caused by a metabolic perturbation that can be detected using old and new methodologies. This lecture will focus on new diagnostic approaches for rare disorders and will highlight the importance of integrating clinical, biochemical, and molecular findings.
Dr. Pasquali is a professor of pathology and co-director of the fellowship training program in biochemical genetics at the University of Utah School of Medicine. 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. Dr. Pasquali trained in biochemical genetics at Emory University, where she later served as the co-director of the Biochemical Genetics Laboratory. Dr. Pasquali is board certified 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 include newborn screening, lysosomal storage disorders, and disorders of carnitine as well as creatine metabolism and transport.
