Dietrich Matern, M.D., Ph.D.

  1. Medical Geneticist
  2. Chair, Laboratory Genetics, Minnesota

Location

  1. Rochester, Minnesota

Languages

English
  1. Fatty acid oxidation disorder
  1. Newborn screening
  • Mitochondrial fatty acid oxidation disorders
  • Diagnosis of inborn errors of metabolism
  • Newborn screening
  • Tandem mass spectrometry
  1. 2000
    Fellow - Clinical Biochemical GeneticsMayo School of Graduate Medical Education, Mayo Clinic College of Medicine
  2. 1999
    Fellow - Clinical Biochemical Genetics, Division of Medical Genetics, Department of PediatricsDuke University Medical Center
  3. 1999
    Fellow - Clinical Genetics, Division of Medical Genetics, Department of PediatricsDuke University Medical Center
  4. 1997
    Resident - PediatricsChildren's Hospital, Albert-Ludwigs University
  5. 1993
    PhDLudwig-Maximilians-University, Munich, Germany
  6. 1991
    Medical SchoolLudwig-Maximilians-University, Munich, Germany

Certifications

  1. 2002
    Clinical Biochemical GeneticsAmerican Board of Medical Genetics and Genomics

Awards and honors

  1. 2021
    Expert on Neonatal ScreeningExpertscape
  2. 2018
    Aaron Michael Graham Lecture 2021Childrens Hospital of Los Angeles
  3. 2018
    Karis AwardMayo Clinic
  4. 2016
    William Krivit Memorial LecturerChildren's Hospital, University of Minnesota
  5. 2016
    2015 AACC Outstanding Speaker AwardAmerican Association for Clinical Chemistry
  6. 2015
    Roger L. Boeckx Memorial LecturerNational Children's Hospital
  7. 2013
    Researcher of the MonthNewborn Screening Translational Reseach Network
  8. 2010
    2010 Emmanual Shapira SIMD AwardSociety for Inherited Metabolic Disorders
  9. 2009
    2009 Emmanuel Shapira SIMD AwardSociety for Inherited Metabolic Disorders
  10. 2007
    2007 Michael Palmieri Lectureship: Newborn Screening - Past, Present and FutureThe Children's Hospital of Philadelphia
  11. 2005
    Horst-Bickel-Lecture: Improving Newborn Screening by MS/MS Based Second Tier TestingInternational Symposium on Galactosemia - Facts and unresolved issues
  12. 1999
    Travel AwardSociety of Inherited Metabolic Disorders
  13. 1998
    Süddeutsche Gesellschaft für Kinderheilkunde und Jugenmedizin: Award for Outstanding Poster PresentationAwarding Organization
  14. 1993
    Deutsche Gesellschaft für Kinderheilkunde und Jugenmedizin: Outstanding Poster PresentationAwarding Organization

Professional memberships

  1. 2021 - present
    SecretaryBoard of Directors of the American College of Medical Genetics and Genomics (ACMG) [Director, Biochemical Genetics]
  2. 2019 - 2021
    MemberBoard of Directors of the American College of Medical Genetics and Genomics (ACMG) [Director, Biochemical Genetics]
  3. 2019 - present
    MemberCAP Biochemical and Molecular Genetics Committee
  4. 2019 - present
    MemberNY ScreenPlus Scientific Advisory Board (PI: M. Wasserstein, MD; The University Hospital for Albert Einstein College of Medicine, Bronx, NY)
  5. 2019 - present
    MemberClinical and Laboratory Standards Institute (CLSI) Document Development Committee on NBS for Congenital Adrenal Hyperplasia (NBS11)
  6. 2019 - present
    MemberClinical and Laboratory Standards Institute (CLSI) Newborn Screening Expert Group
  7. 2019 - present
    MemberKrabbe Translational Research Network (KTRN) Steering Committee
  8. 2016 - present
    ChairIndividualized Medicine Independent Multidisciplinary Program (IM IMP) Diagnostics Subcommittee
  9. 2016 - present
    MemberDepartment of Laboratory Medicine and Pathology Executive Committee
  10. 2016 - present
    MemberNewSTEP's New Conditions Workgroup
  11. 2016 - present
    MemberNewSTEPs New Conditions Workgroup
  12. 2015 - present
    MemberHunter's Hope Foundation Krabbe NBS Task Force
  13. 2015 - present
    MemberHunter’s Hope Foundation Krabbe NBS Task Force
  14. 2014 - 2016
    MemberMetabolic Advisory Group, Genetic Metabolic Center for Education
  15. 2014 - present
    Co-ChairAmerican College of Medicine ACT Sheet and Confirmatory Algorithms Workgroup
  16. 2014 - present
    MemberMetabolic Advisory Group, Genetic Metabolic Center for Education
  17. 2014 - present
    Co ChairAmerican College of Medical Genetics (ACMG) ACT Sheet and Confirmatory Algorithms Workgroup
  18. 2013 - 2017
    MemberClinical and Laboratory Standards Institute (CLSI) Document Development Committee on NBS for Pompe Disease and Other Lysosomal Storage Disorders (NBS07)
  19. 2013 - present
    MemberDLMP Finance Committee, Department of Laboratory Medicine and Pathology
  20. 2013 - present
    ChairDepartment of Laboratory Medicine and Pathology Hereditary Disease Oriented Groups
  21. 2013 - present
    MemberCLSI Working Group on Pompe and Other Lysosomal Storage Disorders (NBS07)
  22. 2012 - present
    MemberDLMP Leadership Committee, Department of Laboratory Medicine and Pathology
  23. 2012 - present
    MemberACMG Nomination Committee
  24. 2012 - present
    MemberACMG Nomination Committee
  25. 2011 - 2018
    Voting MemberAdvisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to the U.S. Secretary of Health and Human Services
  26. 2011 - present
    Voting Board MemberU.S. Secretary's Discretionary Advisory Committee on Heritable Disorders in Newborns and Children
  27. 2008 - 2015
    Board MemberSociety for Inherited Metabolic Disorders
  28. 2008 - 2015
    Board MemberSociety for Inherited Metabolic Disorders (SIMD)
  29. 2007
    MemberPlanning Committee for the 2007 Newborn Screening and Genetic Testing Symposium
  30. 2007 - 2014
    MemberACMG LSD Diagnostic Confirmation Guidelines Work Group
  31. 2007 - 2012
    MemberACMG Laboratory Quality Assurance Committee
  32. 2007 - 2012
    MemberACMG LSD Diagnostic Confirmation Guidelines Work Group
  33. 2006 - 2007
    MemberPlanning Committee for the 2007 Newborn Screening and Genetic Testing Symposium, May 7-10, 2007
  34. 2005 - present
    MemberAmerican College of Medical Genetic ACT Sheet and Confirmatory Algorithms Workgroup
  35. 2005 - present
    MemberWorkgroup on Newborn Screening Diagnosis and Follow-up, American College of Medical Genetics and Genomics
  36. 2004 - present
    MemberSubcommittee on Newborn Screening Follow-Up, National Committee for Clinical Laboratory Standards
  37. 2004 - 2010
    MemberEquipment Subcommittee, Clinical Practice Committee - Rochester
  38. 2004 - 2007
    MemberCLSI Subcommittee on Mass Spectrometry
  39. 2004 - 2005
    MemberCLSI Subcommittee on Newborn Screening Follow-up
  40. 2004 - present
    MemberSubcommittee on Mass Spectrometry, National Committee for Clinical Laboratory Standards
  41. 2003 - present
    MemberTest Implementation Review Committee, Department of Laboratory Medicine and Pathology
  42. 2003 - present
    MemberSociety for Pediatric Research
  43. 2003 - present
    MemberAmerican Society for Mass Spectrometry
  44. 2002 - present
    MemberInternational Society for Newborn Screening
  45. 2001 - present
    MemberLaboratory Information Source Tool (LIST) Team, Department of Laboratory Medicine and Pathology
  46. 2001 - 2002
    MemberICSI Workgroup on "First Trimester Prenatal Testing for Down Syndrome using Nuchal Translucency" (Technology Assessment Report TA#61 published 4/2002)
  47. 2001 - 2002
    MemberInstitute for Clinical Systems Improvement (ICSI) Workgroup
  48. 2001 - present
    MemberMinnesota State Advisory Committee on Heritable and Congenital Disorders
  49. 2001 - present
    MemberMN Newborn Screening Advisory Committee
  50. 2000 - 2006
    MemberInformation Technology Steering Committee, Department of Laboratory Medicine and Pathology
  51. 2000 - present
    MemberAmerican College of Medical Genetics and Genomics
  52. 1999 - present
    MemberSociety for Inborn Metabolic Disorders
  53. 1999 - present
    MemberAmerican Society of Human Genetics
  54. 1996 - present
    MemberArbeitsgemeinschaft fur Pädiatrische Stoffwechselstörungen (German Society for Pediatric Metabolic Disorders)
  55. 1994 - present
    MemberSociety for the Study of Inborn Errors of Metabolism
  56. 1994 - present
    MemberDeutsche Gesellschaft für Kinderheilkunde und Jugendmedizin (German Pediatric Society)
  57. 1993 - 1999
    MemberSelbsthilfegruppe Glykogenose Deutschland e.V. (German Glycogen Storage Disease Association)

Publications

Research activities

See a description of research activities.