Four Boston-area researchers win 2026 Breakthrough Prize for gene therapy breakthroughs

Boston’s biomedical pipeline just showed its range: one set of discoveries helped launch the first FDA-approved CRISPR therapy for sickle cell disease and beta-thalassemia, while another transformed inherited blindness from a near-certain diagnosis into a field with more than 140 active retinal gene therapy trials. Four Boston-area researchers, Stuart H. Orkin, Jean Bennett, Albert Maguire and Katherine High, were among the 2026 Breakthrough Prize winners announced by the Breakthrough Prize Foundation, which awarded six $3 million prizes in a program now in its 14th year and with more than $340 million in total prize money.

Orkin, who is affiliated with Harvard Medical School, Dana-Farber Cancer Institute and Boston Children’s Hospital, shared the life sciences prize with Swee Lay Thein for research that identified BCL11A as a master switch that shuts off fetal hemoglobin after birth. By showing that silencing BCL11A can reactivate fetal hemoglobin, Orkin’s work helped lay the groundwork for Casgevy, the first FDA-approved CRISPR gene-editing therapy, now used for sickle cell disease and beta-thalassemia. The science points directly to one of medicine’s hardest bottlenecks: how to make a one-time genetic treatment durable, scalable and available to patients who need it most.

Bennett, Maguire and High were honored for developing the first FDA-approved gene therapy for an inherited condition, a treatment that dramatically improved sight in people with Leber congenital amaurosis, a rare form of inherited blindness. Penn Medicine and Children’s Hospital of Philadelphia said the work began with blind dogs at a veterinary school and then opened a broader path for retinal medicine. More than 140 gene therapy trials for retinal diseases have followed, including studies for macular degeneration and diabetic retinopathy, conditions that together affect about 30 million people in the United States. Penn said 80 more retinal gene therapy trials are underway, a sign that one landmark therapy can reshape an entire research sector.

The prizes also underscored the institutional weight behind Boston and Philadelphia’s gene-therapy ecosystems. Penn said nine Penn-affiliated researchers have now won Breakthrough Prizes, tying Harvard University for the most. Boston Children’s Hospital has also moved from discovery into access, announcing a January 20 collaboration with Caring Cross to expand gene therapy for sickle cell disease and beta-thalassemia through a worldwide license for BCL11A-LCRshRNAmiR and a decentralized manufacturing model. That effort was aimed squarely at a harsh reality: current gene therapies can cost more than $3 million per dose. In clinical data presented at ASH 2025, the approach showed durable increases in fetal hemoglobin and sustained reduction in disease symptoms, suggesting the next breakthrough may be less about whether the science works and more about whether the health system can deliver it.