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.

The Council, established in 2019, meets monthly to review cases and discuss new developments in Krabbe NBS. Membership is open to any clinician 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, please contact us here.

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.   Dr. Kurtzberg serves as the Director of the Marcus Center for Cellular Cures (MC3), Director of the Pediatric Blood and Marrow Transplant Program, Director of the Carolinas Cord Blood Bank, and Co-Director of the Stem Cell Transplant Laboratory at Duke University.

Dr. Kurtzberg’s research in MC3 focuses on translational studies from bench to bedside, seeking to develop transformative clinical therapies using cells, tissues, molecules, genes, and biomaterials to treat diseases and injuries that currently lack effective treatments. Recent areas of investigation in MC3, which are funded by the Marcus Foundation, include the use of autologous cord blood in children with neonatal brain injury, cerebral palsy, and autism, as well as preclinical studies manufacturing microglial oligodendrocyte-like cells from cord blood to treat patients with acquired and genetic brain diseases. Studies of donor cord blood cells in adults with stroke and children with cerebral palsy and autism are also underway.

Dr. Kurtzberg’s lab has developed novel chemotherapeutic drugs for T-cell Leukemias, assays enumerating ALDH bright cells to predict cord blood potency from segments attached to cryopreserved cord blood units, and is performing translational research testing cord blood expansion, cellular targeted therapies and tissue repair and regeneration. Dr. Kurtzberg currently holds several INDs for investigational clinical trials.

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. 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 will provide the foundation for a successful nomination of Krabbe disease to the RUSP. To learn more about Joseph Orsini, visit his laboratory (linked below) or feel free to reach out to him by email at joseph.orsini@health.ny.gov.

Krabbe NBS Publications

Read published manuscripts about advancements in Krabbe NBS.

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