#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).