On April 18, 2026, the Breakthrough Prize Foundation announced $3 million prizes to three teams of scientists whose work has already changed what's possible for families with certain genetic conditions. All three are FDA-approved treatments families can ask about today, not distant laboratory breakthroughs.

The awards recognize teams behind Luxturna, the first gene therapy for an inherited form of blindness; Casgevy, the first CRISPR-based medicine approved for any disease, which treats sickle cell disease and beta-thalassemia; and the discovery of the most common genetic cause of both ALS and frontotemporal dementia. All three have immediate relevance for families navigating these diagnoses.

The Luxturna Team: Restoring Vision in Inherited Blindness

Jean Bennett, Katherine A. High, and Albert Maguire of the University of Pennsylvania and Children's Hospital of Philadelphia won for developing the first FDA-approved gene replacement therapy for Leber congenital amaurosis (LCA), an inherited retinal disease that causes progressive vision loss starting in infancy.

Their therapy, Luxturna, uses a virus to deliver a working copy of the RPE65 gene directly into eye cells. RPE65 mutations cause faulty proteins that lead to blindness. The one-time treatment replaces the defective gene.

Penn Medicine reports that among 37 trial participants, 72 percent showed the maximum possible improvement in low-light vision tests. One patient who could only detect light changes before treatment gained the ability to navigate Philadelphia streets at night without assistance. Another saw a star for the first time six days after the procedure.

Nearly all eligible U.S. patients have been treated since the FDA approved Luxturna in 2017. Benefits have remained stable over a decade later.

Who Qualifies for Luxturna

Children and adults with confirmed biallelic RPE65 mutations are eligible. That means both copies of the RPE65 gene carry disease-causing variants.

The FDA approved Luxturna for patients 12 months and older. Genetic testing confirms whether someone's LCA diagnosis is specifically caused by RPE65 mutations, which affect about 8 percent of people with LCA.

If your child has been diagnosed with LCA or inherited retinal dystrophy, ask your ophthalmologist whether genetic testing has confirmed RPE65 mutations. Not all LCA cases are caused by RPE65, so genetic confirmation is essential before considering Luxturna.

The Casgevy Team: A CRISPR Cure for Sickle Cell and Beta-Thalassemia

Stuart H. Orkin of Boston Children's Hospital and Swee Lay Thein of the National Institutes of Health won for discovering how to restore fetal hemoglobin production in patients with sickle cell disease and beta-thalassemia.

Their research identified BCL11A as the master genetic switch that shuts down fetal hemoglobin after birth. Orkin demonstrated that inactivating BCL11A restored fetal hemoglobin production in mice and eliminated sickle cell symptoms. That discovery led directly to Casgevy, the first CRISPR-based medicine the FDA has approved for any disease.

Casgevy uses gene editing to turn fetal hemoglobin production back on. The therapy works for both sickle cell disease and beta-thalassemia, blood disorders that affect millions of people worldwide.

Who Qualifies for Casgevy

The FDA approved Casgevy in December 2023 for patients 12 years and older with sickle cell disease who have recurrent vaso-occlusive crises. Vaso-occlusive crises are episodes of severe pain caused by blood cells blocking blood vessels.

Eligible diagnoses include sickle cell disease SS and S-beta-zero-thalassemia. Sickle cell disease SC is not currently eligible.

Approximately 16,000 patients with sickle cell disease may qualify. The treatment requires specialized stem cell transplant expertise, so Vertex has established a network of authorized treatment centers.

If your child has sickle cell disease or beta-thalassemia and experiences recurrent pain crises, ask their hematologist whether they meet the criteria for Casgevy. Care managers are available through Vertex Connects to help families navigate the process.

Cost is a major barrier. Casgevy costs approximately $2.2 million. Insurance coverage varies, so families should confirm coverage early in the conversation.

The ALS/FTD Discovery: Genetic Testing for Families

Rosa Rademakers of VIB and the University of Antwerp and Bryan Traynor of the National Institute on Aging independently identified the C9orf72 gene mutation, the most common genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

The C9orf72 mutation explains about 40 percent of familial ALS cases, 25 percent of familial FTD cases, and up to 10 percent of cases in people with no apparent family history. The discovery has enabled genetic testing for families and opened pathways to clinical trials.

At least two therapies targeting C9orf72 are currently in clinical trials, including a phase 2 study of a monoclonal antibody designed to elevate progranulin levels in the brain.

Who Should Consider C9orf72 Genetic Testing

C9orf72-related ALS and FTD are inherited in an autosomal dominant pattern. Each child of an affected parent has a 50 percent chance of inheriting the mutation.

If someone in your family has been diagnosed with ALS, FTD, or both, genetic testing can confirm whether the C9orf72 mutation is the cause. That information affects family planning, eligibility for clinical trials, and genetic counseling for relatives.

Genetic testing for C9orf72 is widely available. If you have a family history of ALS or FTD, talk to a neurologist or genetic counselor about whether testing makes sense for you or your family members.

Testing also identifies whether children or siblings carry the mutation before symptoms appear. That information can guide decisions about presymptomatic monitoring and clinical trial participation.

What This Means for Families

These prizes recognize work that has already moved from the lab to the clinic. Luxturna and Casgevy are not future possibilities. They're FDA-approved treatments available at specialized medical centers now.

For families with a child diagnosed with LCA, sickle cell disease, beta-thalassemia, or a family history of ALS or FTD, the scientists' work offers actionable pathways forward. The question isn't whether gene therapy will one day help. It's whether your family qualifies for treatment today.

Start by confirming the genetic basis of the diagnosis. Not all inherited blindness is caused by RPE65 mutations. Not all sickle cell patients meet the criteria for Casgevy. Not all ALS or FTD cases involve C9orf72. Genetic testing clarifies who's eligible and what options exist.

What Families Can Do Now

• If your child has Leber congenital amaurosis or inherited retinal dystrophy, ask your ophthalmologist whether genetic testing has confirmed RPE65 mutations. If yes, ask about Luxturna eligibility.
• If your child has sickle cell disease with recurrent pain crises and is 12 or older, ask their hematologist whether Casgevy is an option. Confirm insurance coverage early.
• If you have a family history of ALS or frontotemporal dementia, talk to a neurologist or genetic counselor about C9orf72 genetic testing. The results affect family planning, clinical trial access, and monitoring for relatives.

The Breakthrough Prize ceremony will take place in Los Angeles on April 18, 2026, with a YouTube premiere on April 26, 2026. More than 100 retinal gene therapy trials are now underway, building on the work the Penn/CHOP team began in the 1980s. The path from laboratory concept to approved therapy took decades for these teams. For families eligible today, that timeline has already run.