Gene Therapy Innovators Share 2026 Breakthrough Prize

Rare Daily Staff

The Breakthrough Prize Foundation awarded the 2026 Breakthrough Prizes in Life Sciences to a group of scientists whose work led to major advances in gene therapy and the understanding of devastating genetic diseases.

The awards, dubbed the “Oscars of Science,” recognize achievements in fields including medicine and carry a $3 million prize. Now in their 14th year, the prizes were founded by tech leaders including Sergey Brin, Priscilla Chan, and Mark Zuckerberg, Julia and Yuri Milner, and Anne Wojcicki.

One prize was awarded to Jean Bennett, Katherine High, and Albert Maguire for developing the first gene replacement therapy approved by the U.S. Food and Drug Administration. Their work targets Leber congenital amaurosis, a rare inherited eye disorder that can lead to blindness early in life.

The therapy replaces a defective gene known as RPE65, restoring a critical process in the retina that allows the eye to respond to light. The treatment has enabled some children who were losing their vision to regain independence, attend school, and, in some cases, even qualify for driver’s licenses.

Bennett and Maguire, a husband-and-wife research team, helped pioneer the treatment from early laboratory work through successful animal studies. High, a physician-scientist at Children’s Hospital of Philadelphia, later joined the effort and played a key role in launching human clinical trials and navigating regulatory approval.

Today, most eligible patients in the United States have received the therapy, with many maintaining improved vision more than a decade after treatment. The work also helped establish a path for developing and approving other gene therapies, spurring hundreds of clinical trials worldwide.

A second prize went to Stuart Orkin and Swee Lay Thein for discoveries that led to gene-editing treatments for sickle cell disease and beta-thalassemia, two inherited blood disorders affecting millions globally.

Both conditions stem from problems with hemoglobin, the protein that carries oxygen in red blood cells. Orkin and Thein’s research focused on fetal hemoglobin, a form normally produced before birth. Some people continue making it into adulthood and experience milder disease.

Thein identified a key genetic region linked to this effect, while Orkin showed that a gene called BCL11A suppresses fetal hemoglobin after birth. By targeting a specific control region of that gene, researchers developed a CRISPR-based therapy that reactivates fetal hemoglobin production.

The approach led to the first approved CRISPR-based treatment, offering a potential one-time, curative therapy for patients.

A third prize recognized Rosa Rademakers and Bryan Traynor for uncovering a major genetic cause of amyotrophic lateral sclerosis, or ALS, and frontotemporal dementia, or FTD, two neurodegenerative diseases.

In 2011, working independently, the researchers identified a mutation in a gene called C9orf72. The mutation involves an abnormal repetition of a short DNA sequence and is now known to account for a significant share of inherited cases of both diseases.

The discovery linked ALS and FTD as part of a broader disease spectrum and provided new insight into how toxic molecules damage brain cells. It also enabled genetic testing for families and opened new avenues for drug development, with several experimental therapies now in clinical trials.

While ALS and FTD remain incurable, scientists say the finding has transformed understanding of the diseases and pointed to promising targets for future treatments.