The New York State was the first state to initiate newborn screening for Krabbe disease thanks to the Newborn Screening Program at the Wadsworth Center. Krabbe disease is a rare and often fatal leukodystrophy affecting the white matter of the brain and the central and peripheral nervous systems.
Dr. Joseph Orsini was responsible for implementing screening for Krabbe disease, initiated in 2006, and he has continued to oversee this testing. With Dr. Orsini's leadership, Krabbe disease was added to the federally recommended uniform screening panel in 2024, and many states are now adding the disease to their state screening panels.
Since 2008 Dr. Orsini has been attending the Hunter’s Hope Annual Medical Symposium, which brings together basic Krabbe disease researchers, neurologists, newborn screening experts, and families to discuss newborn screening, follow-up and therapies for Krabbe disease. Dr. Orsini was asked to participate in a panel discussion that was designed to inform other states on the best practices in screening for Krabbe disease, mostly based on the experiences in New York State. Additionally, Dr. Orsini attended a breakout session with the goal of updating the best follow-up screening and medical practices for babies that are likely to develop late-onset Krabbe disease based on second-tier biochemical and genetic testing.
More recently, this Medical Symposium has broadened the focus to include screening and therapies for other leukodystrophies, such as adrenoleukodystrophy (ALD) and metachromatic leukodystrophy (MLD). New York State was the first to start screening for adrenoleukodystrophy and is currently pilot screening for metachromatic leukodystrophy.