Dietrich Matern

Dietrich Matern, M.D., Ph.D. is a Professor of Medical Genetics, Pediatrics, and Laboratory Medicine and Pathology at Mayo Clinic College of Medicine. He serves as a Consultant in the Division of Laboratory Genetics and Genomics within the Department of Laboratory Medicine and Pathology, with additional appointments in the Department of Medical Genetics and the Division of Pediatric Genetics. Dr. Matern is actively involved in national advisory committees including serving as Secretary of the Board of Directors of the American College of Medical Genetics and Genomics (ACMG) and as a Voting Member of the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.

Dr. Matern's primary research interest is in the biochemical diagnosis of inborn errors of metabolism, with particular expertise in mitochondrial fatty acid beta-oxidation disorders, organic acidemias, amino acidopathies, lysosomal storage disorders, and glycogen storage disorders. His laboratory work focuses on developing and improving assays for newborn screening and diagnostic follow-up of metabolic disorders. A major recent focus has been on expanding newborn screening to include lysosomal storage disorders, Friedreich's ataxia, Wilson's disease, and X-adrenoleukodystrophy.

Dr. Matern's research has led to significant improvements in newborn screening technology, notably through the implementation of tandem mass spectrometry which has dramatically reduced false-positive rates and shortened diagnosis times. His work has been funded by the National Institute of Child Health & Human Development (NICHD), the Newborn Screening Translational Research Network (NBSTRN), and the Legacy of Angels Foundation, among others.

• 2022 Sue Rosenau Legacy Award, The Legacy of Angels Foundation
• 2021 Expert on Neonatal Screening, Expertscape
• 2018 Karis Award, Mayo Clinic
• 2016 William Krivit Memorial Lecturer, Children's Hospital, University of Minnesota
• 2015 AACC Outstanding Speaker Award, American Association for Clinical Chemistry
• 2010 Emmanuel Shapira SIMD Award, Society for Inherited Metabolic Disorders

Dr. Matern has made substantial contributions to the field through his research publications, participation in national advisory committees, and development of improved diagnostic methodologies. His work in the Biochemical Genetics Laboratory at Mayo Clinic has significantly reduced unnecessary follow-up testing for families while improving early detection of serious metabolic disorders.