Dietrich Matern, M.D.

The Newborn Screening Translational Research Network is happy to announce that November’s spotlight researcher is Dietrich Matern, M.D.  Dr. Matern’s research background began after he completed medical school at Ludwig-Maximilians-University in Munich, Germany. After he finished medical school, Dr. Matern held a residency in Pediatrics at Albert Ludwigs University in Freiburg, Germany. After his residency he went on to complete a clinical genetics fellowship in the Department of Pediatrics at Duke University Medical Center. Following his fellowship in clinical genetics, Dr. Matern further specialized with a fellowship in clinical biochemical genetics at Duke University. Since then Dr. Matern has worked on a fellowship for clinical biochemical genetics at the Mayo School of Graduate Medical Education in the Mayo Clinic College of Medicine and serves as the current chair of laboratory genetics and professor of laboratory medicine and pathology in medical genetics and pediatrics at Mayo Clinic.

Dr. Matern has specialized primarily in the biochemical diagnosis of inborn errors of metabolism, with a focus in mitochondrial fatty acid beta-oxidation disorders, organic acidemias, amino acidopathies, lysosomal storage disorders and glycogen storage disorders. Dr. Matern works specifically on laboratory improvement particularly for laboratory assays for the biochemical diagnosis and follow-up of patients with inborn errors of metabolism. His research has led him to study three critical issues in his work at Mayo Clinic; the evaluation of newborn screening tests for lysosomal storage disorders, Friedreich’s ataxia, Wilson’s disease and x-adrenoleukodystrophy, lowering healthcare costs through better newborn screening, and reducing the wait time for a diagnosis with the use of tandem mass spectrometry.

Dr. Matern’s significant work in laboratory medicine and pathology has been influential to the newborn screening community. He has served as a member of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children since 2011, and he has been a member of the Advisory Committee on Heritable and congenital Disorders for the state of Minnesota since 2001.  Thank you, Dr. Matern for your great work and dedication to newborn screening research!


Mayo Clinic

Researcher Name and Credentials: 
Dietrich Matern, M.D.