Below is a list of individuals devoted to newborn screening for Krabbe disease. Their scientific discoveries and related studies continue to improve the timeliness of diagnosis for expedited treatment. Given the difficulty in diagnosing Krabbe disease, KrabbeConnect believes it’s important to make you aware of the brilliant individuals involved with NBS for Krabbe disease. It’s our goal to one day have Krabbe disease be part of the RUSP, and for every newborn screening to include Krabbe disease. For more information on our efforts, visit our Krabbe Disease Newborn Screening page.
Dr. Dietrich Matern, MD, Ph.D.
Dr. Dietrich Matern, MD, 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. 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. 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 160 peer-reviewed publications and 20 textbook chapters. 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. Since 2001 he has been an active member of the Minnesota State Advisory Committee on Heritable and Congenital Disorders, and from 2011 to 2018 served as 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 InheritedThe way genes are passed down from one generation to the next. There are many different types of inheritance patterns. Krabbe disease is inherited in an autosomal recessive pattern of inheritance. 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).
Professor Michael H. Gelb
Professor Michael Gelb is the Boris and Barbara L. Weinstein Endowed Chair in Chemistry in the Departments of Chemistry and Biochemistry at the University of Washington in Seattle. Professor Gelb’s laboratory developed the technology that brought newborn screening (NBS) for Krabbe disease to the forefront and led to New York being the first to begin statewide NBS for Krabbe disease in 2006. Since the initial inception, Gelb has worked closely with Dr. Dietrich Matern, at the Mayo Clinic in MN, and Dr. Joseph Orsini, at the Wadsworth Center in NY, to develop methods to improve screening, diagnostic challenges, and prognostic testing for Krabbe disease. This team continues to monitor newborn screening and post-screening data to further define the best approach to newborn screening and follow-up for Krabbe disease. This work will provide the foundation for a successful nomination of Krabbe disease to the RUSP. To learn more about Michael Gelb, visit his Laboratory or feel free to reach out to him by email at gelb@uw.edu.
