Piero Rinaldo, M.D., Ph.D., of the Mayo Clinic Biochemical Genetics Laboratory, has been named the 2013 recipient of the prestigious Robert Guthrie Award. This award is given annually to honor a member of the International Society for Neonatal Screening (ISNS) who has made an outstanding contribution to newborn or other population-based screening that is recognized as such world-wide.
Born in Venezia, Italyl, Dr. Piero Rinaldo received his medical and research training at the University of Padova in Italy and Yale University. Currently he serves as co-director of the Biochemical Genetics Laboratory in the Department of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester, MN (USA). Dr. Rinaldo is a Professor of Laboratory Medicine and the T. Denny Sanford Professor of Pediatrics, he also holds joint appointments in the Department of Pediatrics & Adolescent Medicine and in the Department of Medical Genetics.
His clinical interests include the laboratory diagnosis of inborn errors of metabolism, particularly mitochondrial fatty acid oxidation disorders, newborn screening and metabolic disorders misdiagnosed either as child abuse or sudden and unexpected death. Since 2004 he has devoted his effort primarily to the development and clinical validation of multivariate pattern recognition software that improves the interpretation of complex profiles of laboratory results. The software integrates multiple clinically significant results in a single score for a particular condition in a manner that is objective, evidence-based, and open to worldwide collaboration and data sharing. This approach was first applied to newborn screening by tandem mass spectrometry, the Region 4 Stork (R4S) project, and has grown to involve 1,000+ users from 197 programs in 60 countries, allowing the creation of an extensive database of true positive cases (>16,000 cases, over 1.2 million data points).