#3 Francesca Tucci: Hurler Syndrome and gene therapy

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Trainee Pearls

The EBMT Trainee Committee

16 episodes

2 days ago

Welcome to “Trainee Pearls”, a new initiative brought to you by the EBMT Trainee Committee to deliver the most important messages (“the pearls”) of high-profile research works in hematology and bone marrow transplant to our fellow trainees all over the world. The topics will span from classical hematology to more focused bone marrow transplant research. The selected research article will be discussed directly with young authors who have been involved with the published work.

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#3 Francesca Tucci: Hurler Syndrome and gene therapy

Trainee Pearls

28 minutes 7 seconds

3 years ago

#3 Francesca Tucci: Hurler Syndrome and gene therapy

Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart. Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]). However, this treatment is only partially curative and is associated with complications.
Join our conversation with Francesca Tucci from Pediatric Immunohematology and Bone Marrow Transplantation and the San Raffaele Telethon Institute for Gene Therapy, Milan, Italy (Article: https://www.nejm.org/doi/full/10.1056/NEJMoa2106596).