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 at hope@huntershope.org.
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’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.
Krabbe NBS Publications
Read published manuscripts about advancements in Krabbe NBS.
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