Joseph Orsini from the Wadsworth Center Newborn Screening Program attended the 2026 Newborn Screening by Tandem Mass Spectrometry Workshop held in Atlanta, Georgia, from April 30-May 1, 2026. The workshop was co-sponsored by the Association of Public Health Laboratories and the Centers for Disease Control and Prevention and brought together laboratory professionals from state newborn screening programs across the country for advanced training in tandem mass spectrometry applications in newborn screening. Dr. Orsini’s laboratory has been a global leader in the application of tandem mass spectrometry for newborn screening. His laboratory was the first in the world to implement newborn screening for Krabbe disease, a lysosomal disorder, lysosomal storage disorders in 2006 and for X-linked adrenoleukodystrophy in 2013, helping establish approaches that have since been adopted by newborn screening programs internationally.
The workshop featured lectures and hands-on laboratory instruction led by experts from state newborn screening programs with specialized expertise in mass spectrometry. Topics included the fundamentals of liquid chromatography and tandem mass spectrometry, quantitative analysis using stable isotope methodologies, assay development, quality assurance, and troubleshooting approaches for newborn screening laboratories. The workshop included 13 trainee participants representing 12 state newborn screening programs across the United States. The program was designed to provide both foundational and applied training for laboratory professionals who are new to tandem mass spectrometry in the newborn screening setting. Through lectures, laboratory demonstrations, and interactive discussions, participants gained practical knowledge and technical skills to support implementation and enhancement of newborn screening capabilities within their home laboratories.
As part of the workshop, Dr. Orsini delivered two invited lectures entitled “Lysosomal Diseases: Biochemistry and Newborn Screening” and “X-Linked Adrenoleukodystrophy: Biochemistry and Newborn Screening.” His presentations highlighted the biochemical basis of these disorders, the development and implementation of screening methodologies, and the importance of early detection for improving patient outcomes. Dr. Orsini’s participation as an invited lecturer further demonstrated the Wadsworth Center’s national and international leadership in newborn screening, mass spectrometry, and innovative approaches for the detection of rare genetic disorders.