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.
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 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).
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 email@example.com.
Joseph Orsini, Ph.D.
Dr. Joseph Orsini is the Deputy Director for the New York Newborn Screening Program. Dr. Orsini’s laboratory was the first to implement newborn screening for Krabbe disease (KD), applying the research method of Dr. Michael Gelb’s laboratory, to high throughput screening. Dr. Orsini worked with Genzyme (currently Sanofi)in developing a test that could screen for psychosine, the enzyme that is deficient in Krabbe disease patients. Studies have revealed that psychosine is noticeable elevated in newborns when assessing infantile KD. Furthermore, additional studies indicate that second tier testing for psychosine can significantly reduce the incidence rate of false positive in KD. Currently, Dr. Joseph Orsini works with Professor Michael Gelb, Dr. Dietrich Matern, the New York State Krabbe Consortium, and the Krabbe Disease Task Force to redefine who’s at risk for late onset KD. This ongoing work in newborn screening for Krabbe disease will provide the scientific platform for a successful nomination of Krabbe disease to the RUSP. To learn more about Joseph Orsini, visit his Laboratory or feel free to reach out to him by email at firstname.lastname@example.org