SUMMARY
Dietrich Matern, M.D., Ph.D., has a primary research interest in newborn screening and the biochemical diagnosis and monitoring of patients with inborn errors of metabolism. This includes lysosomal disorders, mitochondrial fatty acid beta-oxidation disorders, organic acidemias, amino acidopathies and glycogen storage disorders.
Dr. Matern's research activities focus on developing and refining laboratory assays to improve the screening, diagnosis and follow-up of patients with inborn errors of metabolism. He also collaborates with colleagues at Mayo Clinic and other academic institutions on the laboratory evaluation of animal models and clinical trials. His research has been funded by the National Institute of Child Health and Human Development, the Newborn Screening Translational Research Network, The Legacy of Angels Foundation and other nonprofit organizations.
Focus areas
- Reducing the false-positive rate in newborn screening. Dr. Matern and his colleagues pursue the growth, implementation and integration of second-tier tests for screening markers that have high sensitivity but low specificity. One recent example is psychosine, which helps determine the clinical relevance of reduced galactocerebrosidase activity in newborns. Using psychosine as a second-tier test has been shown to greatly reduce the emotional and financial burden of false-positive results for Krabbe disease while supporting rapid, lifesaving treatment for infants who are truly affected.
- Elucidating genotypes of uncertain significance. Dr. Matern creates new or improved assays to measure biomarkers indicating the presence of a disease. These assays help clarify genotypes that have not been confirmed to be pathogenic and are identified through clinical testing or recreational direct-to-consumer testing.
- Reducing the wait time for a diagnosis. Through the design and integration of new laboratory tests, Dr. Matern and his colleagues have replaced laborious and time-consuming assays. One example is amino acid analysis, a commonly used first line test for identifying patients with inborn errors of amino acid metabolism. Unlike previous methods, the new approach uses tandem mass spectrometry, which can measure more than 40 amino acids in less than 30 minutes — about five times faster than the traditional assay.
Significance to patient care
Dr. Matern and his colleagues in the Biochemical Genetics Laboratory help prevent many families from experiencing unnecessary stress and extra testing when a baby's screening result looks abnormal, but the baby is actually healthy. Their improvements not only spare families from worry but also reduce healthcare costs by avoiding follow-up tests that aren't needed.
Professional highlights
- Member, Newborn Screening Expert Group, Clinical and Laboratory Standards Institute, 2019-present.
-
American College of Medical Genetics and Genomics:
- Chair, ACT Sheet and Confirmatory Algorithms Workgroup, 2019-present.
- Member, ACT Sheet and Confirmatory Algorithms Workgroup, 2005-present.
- Board member, 2019-2025.
- Secretary, 2019-2025.
- Co-director, National Coordinating Center for the Regional Genetics Networks, 2021-2024.
- Member, Laboratory Quality Assurance Committee, 2007-2012.
- Member, Advisory Committee on Heritable and Congenital Disorders, Minnesota Department of Health, 2001-present.
- Member, Biochemical and Molecular Genetics Committee, College of American Pathologists, 2019-2025.
- The Sue Rosenau Legacy Award, The Rosenau Family Research Foundation, 2022.
-
Mayo Clinic:
- Chair, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, 2012-2019.
- Karis Award, Mayo Clinic, 2018.
- Voting member, Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Department of Health and Human Services, 2011-2019.
- Board member, Society for Inherited Metabolic Disorders, 2008-2014.
- Faculty, North American Metabolic Academy of the Society for Inherited Metabolic Disorders, 2007-2011.