Krabbe NBS Council

The Krabbe Newborn Screening Council is a cohort of medical providers, state newborn screening staff, and disease experts focused on providing the best possible outcomes for children who screen positive for Krabbe disease through state newborn screening (NBS) programs.

The Council, established in 2019, meets monthly to review cases and discuss new developments in Krabbe NBS. Membership is open to any medical provider or scientist in states currently screening for Krabbe Disease (KD) or in the process of implementation.

If you meet these requirements and are interested in joining the Krabbe NBS Council, you can apply here.

Dr. Joanne Kurtzberg -- Chair, Krabbe NBS 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, Krabbe NBS Council

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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This and three additional studies showed that psychosine is very elevated in newborns that will be affected by the infantile form of KD. Additionally, the testing shows that second tier testing for psychosine can significantly reduce the number of false positive KD.  Dr. Orsini is working with Gelb, Matern, the New York State Krabbe Consortium, and the Krabbe Disease Task Force to redefine who is at risk for late onset KD; the new definition of which patients are truly at risk should reduce the number of infants with possible late onset KD by at least a factor of three. This work provided the foundation for a successful nomination of Krabbe disease to the RUSP.

Krabbe NBS Publications

Read published manuscripts about advancements in Krabbe NBS.

Click here to find out more