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Dietrich Matern, M.D., Ph.D. (USA)

MaternDietrich Matern, M.D., Ph.D., is a Professor of Laboratory Medicine, Medical Genetics and Pediatrics, and co-director of the Biochemical Genetics Laboratory at the Mayo Clinic in Rochester, Minnesota, USA. Before joining the Mayo Clinic in 1999, and following a pediatric residency in his native Germany, he completed fellowships in Clinical Genetics and Clinical Biochemical Genetics at Duke University in North Carolina, USA.

He has a primary interest in the biochemical diagnosis of inborn errors of metabolism, particularly lysosomal disorders, mitochondrial fatty acid beta-oxidation disorders, organic acidemias, and amino acidopathies.

Dr. Matern's research activities involve the development and improvement of laboratory assays for the effective and efficient screening, diagnosis and follow-up of patients with inborn errors of metabolism. A particular focus in recent years has been on the development of an efficient and effective approach to the newborn screening for several lysosomal disorders.

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. He authored or co-authored more than 150 peer-reviewed publications and 20 textbook chapters, and has given more than 80 invited presentations at national and international meetings and 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. Since 2005, Dr. Matern has been a member and co-chair (2016-present) of the American College of Medical Genetics and Genomics’ (ACMG) ACTsheet and Confirmatory Algorithms Workgroup and from 2007 to 2012 he served on ACMG’s Laboratory Quality Assurance Committee.

Since 2001 he has been an active member of the Minnesota State Advisory Committee on Heritable and Congenital Disorders, and from 2011 to 2018 was a voting member on the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to the U.S. Secretary of Health and Human Services. He was a board member of the Society for Inherited Metabolic Disorders (SIMD) from 2008 to 2015, and faculty of SIMD’s North American Metabolic Academy (NAMA) from 2007 to 2011.

Dr. Matern currently serves on ACMG’s Board of Directors, is a member of the CAP/ACMG Biochemical & Molecular Genetics Resource Committee, and serves on working groups of patient advocacy organizations, the Association of Public Health Laboratories (APHL), and the Clinical Laboratory Standards Institute (CLSI).

Main publications:

  • Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004-2007). J Inherit Metab Dis. 2007; 30: 585-92
  • Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D. Combined newborn screening for succinylacetone, amino acids and acylcarnitines in dried blood spots. Clin Chem 2008; 54: 657-664
  • Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D. The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. Genet Med. 2020 Feb 24. doi: 10.1038/s41436-020-0764-y. [Epub ahead of print] PubMed PMID: 32089546.