Dietrich Matern, M.D., has a primary interest in the biochemical diagnosis of inborn errors of metabolism, particularly mitochondrial fatty acid beta-oxidation disorders, organic acidemias, amino acidopathies, lysosomal storage disorders and glycogen storage disorders.
Dr. Matern's research activities primarily involve the development and improvement of laboratory assays for the biochemical diagnosis and follow-up of patients with inborn errors of metabolism. A particular focus in recent years has been on newborn screening for several lysosomal storage disorders, Friedreich's ataxia, Wilson's disease and X-adrenoleukodystrophy.
He has also participated in the laboratory evaluation of animal models and clinical trials as a collaborator with colleagues at Mayo Clinic and other academic institutions. Dr. Matern's research has been funded by the National Institute of Child Health & Human Development (NICHD), the Newborn Screening Translational Research Network (NBSTRN), the Legacy of Angels Foundation, and other not-for-profit organizations.
Evaluation of several newborn screening tests for lysosomal storage disorders, Friedreich's ataxia, Wilson's disease and X-adrenoleukodystrophy. With funding from several sources, Dr. Matern and his Mayo Clinic colleagues Dimitar K. Gavrilov, M.D., Ph.D.; Grazia Isaya, M.D., Ph.D.; Devin Oglesbee, Ph.D.; Kimiyo M. Raymond, M.D.; Piero Rinaldo, M.D., Ph.D.; and Silvia Tortorelli, M.D., Ph.D., are currently undertaking a comparative effectiveness study to determine the most efficient and effective approach to newborn screening for up to 13 different lysosomal storage disorders, Friedreich's ataxia, Wilson's disease and X-adrenoleukodystrophy.
This study began at the end of 2011 and aims to evaluate 100,000 newborn screening blood spot samples by the end of 2013. Several approaches to rapidly confirm a presumptive diagnosis will also be evaluated that apply biochemical and molecular genetic assays. This study should aid in determining whether all or only a select number of the targeted conditions can be screened for in a cost-effective manner and the least possible impact on the false-positive rate. This study addresses crucial problems in the expansion of newborn screening programs to include these conditions.
- Lowering health care costs through better newborn screening. Dr. Matern and his colleagues in the Biochemical Genetics Laboratory continue to work on improvements to current newborn screening assays that help reduce unnecessary health care costs and patient anxiety. This is accomplished by the development of laboratory tests that allow for the measurement of diagnostic biomarkers in newborn screening dried blood spots. Several such assays have already been implemented, resulting in an exemplary low false-positive rate and high positive predictive value.
- Reducing the wait time for a diagnosis. Through the development and implementation of new laboratory tests, Dr. Matern and his colleagues have been able to replace laborious and time-consuming assays. One example is the analysis of amino acids, the primary tests used for the identification of patients with inborn errors of amino acid metabolism. Contrary to previous assays, the new method makes use of a technology called tandem mass spectrometry that allows for the measurement of more than 40 amino acids in less than 30 minutes — five times faster than the traditional method.
Significance to patient care
The work of Dr. Matern and his colleagues in the Biochemical Genetics Laboratory has significantly reduced the number of families that have to go through unnecessary worries and tests because the result of their baby's screening test was a false-positive. In addition to this benefit to families, these improvements also helped reduce overall health care expenditures by avoidance of unnecessary follow-up evaluations.
- Voting Member, Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), U.S. Department of Health and Human Services, 2011-present
- Member, Advisory Committee on Heritable and Congenital Disorders, State of Minnesota, 2001-present
- Board Member, Society for Inherited Metabolic Disorders (SIMD), 2008-present
- Member, American College of Medical Genetics (ACMG) ACT Sheet and Confirmatory Algorithms Workgroup, 2005-present
- Member, American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee, 2007-2012
- Faculty, North American Metabolic Academy (NAMA) of the Society for Inherited Metabolic Disorders, 2007-2011
- Michael Palmieri Lectureship, The Children's Hospital of Philadelphia, 2007