Dr. Joseph Orsini, Deputy Director of the Newborn Screening Program at the Wadsworth Center, has been honored with the 2025 George Cunningham Visionary Award in Newborn Screening. This prestigious lifetime achievement award recognizes individuals working in U.S. newborn screening programs who have made outstanding contributions to expanding or improving newborn screening and, in doing so, have directly enhanced the quality of life for infants and their families. The award was presented on October 7, 2025, during the Association of Public Health Laboratories (APHL) Newborn Screening Symposium in Providence, Rhode Island.
Dr. Orsini’s groundbreaking work began in 2006 with the implementation of the world’s first newborn screening test for Krabbe disease, a lysosomal disorder that, without early detection and treatment, leads to rapid neurodegeneration and death in early childhood. His pioneering efforts laid the foundation for Krabbe disease to be recommended for universal screening by the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) in 2024; it is now included in the Recommended Uniform Screening Panel (RUSP) and used in 15 states.
As Director of the Lysosomal Disorder Laboratory, Dr. Orsini oversees statewide screening for lysosomal disorders and X-linked adrenoleukodystrophy (X-ALD), both of which were first implemented at the Wadsworth Center under his leadership. His laboratory also conducts biochemical testing for ScreenPlus, a research program offering optional pilot screening for 12 additional conditions not yet part of the New York State panel. Most recently, his team became the first in the U.S. to pilot universal screening for metachromatic leukodystrophy (MLD).
Dr. Orsini is widely recognized for his collaborative approach, sharing methods and data to enable other states and countries to expand their own screening programs. His innovations have directly improved early diagnosis and treatment outcomes for children with rare metabolic and genetic disorders.