KD NBS Advisory Council

The Krabbe Disease Newborn Screening Council is a cohort of clinicians, state newborn screening staff, and experts focused on providing the best possible outcomes for children who screen positive for Krabbe disease through their state’s newborn screening (NBS) program.

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Dr. Joanne Kurtzberg -- Chair, KD NBS Advisory Council

Dr. Kurtzberg is an internationally renowned expert in pediatric hematology/oncology, pediatric blood and marrow transplantation, umbilical cord blood banking and transplantation, and novel applications of cord blood in the emerging fields of cellular therapies and regenerative medicine.  

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Dr. Joseph Orsini -- Co-Chair, KD NBS Advisory Committee

Dr. 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 Gelb and coworkers to high throughput screening. Dr. Orsini worked with Genzyme (Currently Sanofi) in developing a test that could screen for psychosine, this is a substrate of galactocerebrosidase, the enzyme that is deficient in Krabbe disease patients.

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Krabbe NBS Publications

Read published manuscripts about advancements in Krabbe NBS.

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