Joseph Orsini, Ph.D., Deputy Director of the Newborn Screening Program

In 2006, under Dr. Orsini's leadership, New York was the first state to implement newborn screening for Krabbe Disease, a rare and often fatal leukodystrophy.

Dr. Joseph Orsini, Director of the Newborn Screening Program’s Biochemical Genetics Laboratory, represented the Wadsworth Center at the Hunter’s Hope Medical Symposium, held July 15-16, 2025, in Ellicottville, NY. 

He has attended this annual symposium since 2008, which brings together scientists, clinicians, newborn screening professionals, and families to advance understanding of Krabbe Disease and other leukodystrophies. 

Krabbe Disease was added to the federal Recommended Uniform Screening Panel (RUSP) in 2024, leading many states to adopt Krabbe Disease screening. 

At this year’s symposium, Dr. Orsini participated in a panel discussion focused on best practices for Krabbe Disease screening and optimal clinical follow-up for infants identified through newborn screening, further reinforcing New York’s national leadership in this area. 
 

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