Gene Therapy

Long Island Man Receives First-Ever Gene Therapy Cure for Sickle Cell Anemia

Sebastien Beauzile, a Long Island resident, is the first person in New York State to be cured of sickle cell anemia, thanks to a groundbreaking gene therapy administered at Cohen Children’s Medical Center. This innovative treatment, utilizing Lyfgenia, involved IV transfusions of Beauzile’s own bone marrow stem cells to produce healthy red blood cells, effectively eliminating the disease after 21 years of suffering. Doctors hailed this as a major medical advancement, representing the first cure for the disease in over a century. The hospital plans to extend access to this life-changing therapy to underserved communities disproportionately affected by sickle cell anemia.

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Huntington’s Disease Breakthrough: Slow-Growing Mutation Unveiled

A new study reveals that the Huntington’s disease mutation, while present from birth, remains harmless for decades. The mutation gradually expands, increasing the number of CAG repeats in a specific gene. Once the repeat count surpasses approximately 150, a threshold is reached, triggering the production of toxic proteins and subsequent neuron death. This neuronal degeneration accounts for the disease’s characteristic symptoms, which typically manifest between ages 30 and 50. These findings suggest that inhibiting the expansion of CAG repeats may be a more effective therapeutic strategy than targeting the toxic protein itself.

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