Baby Receives World's First Brain Gene Therapy for Epilepsy

A baby in Israel just received a therapy that didn't exist when they were born, and it could change everything for families battling one of the world's rarest forms of epilepsy.

At eight months old, the infant became the first person ever to receive experimental gene therapy for WOREE syndrome, a devastating genetic disorder that causes unstoppable seizures and typically claims young lives within two to four years. Doctors at Schneider Children's Medical Center delivered the treatment directly into the baby's brain, replacing the missing WWOX gene that controls crucial neurological development.

The baby seemed healthy at birth but started having severe seizures at just six weeks old. Genetic testing revealed the rare inherited defect, leaving the family facing an impossible diagnosis. Only 60 to 90 confirmed cases exist worldwide, making this an ultra-orphan disease that receives little research attention or funding.

Professor Rami Aqeilan from Hebrew University of Jerusalem spent years studying the WWOX gene, originally known for its cancer research applications. His team discovered it also plays a vital role in brain development and stability. When they created mouse models lacking the gene, the animals showed the same devastating symptoms as children with WOREE syndrome.

That discovery led to developing a solution: using a viral vector to deliver a healthy copy of the gene directly to brain neurons. In animal studies, a single treatment restored gene function, improved seizures, fixed growth problems, and extended survival.

The breakthrough required collaboration across continents, bringing together Israeli researchers, clinicians, and California-based Mahzi Therapeutics. The biotech company focuses specifically on underserved rare diseases, uniting patient families with scientists to develop therapies that might otherwise never get funded.

Why This Inspires

This story shows what happens when researchers refuse to give up on the smallest patient populations. While pharmaceutical companies often skip ultra-rare diseases because they affect too few people to be profitable, this team chose differently.

The treatment also demonstrates how basic scientific curiosity can transform into lifesaving medicine. Aqeilan started by simply trying to understand what the WWOX gene does. That fundamental question evolved into a potential cure for children facing certain death.

For families carrying rare genetic mutations, especially those in the Yemeni Jewish community where this particular variant appears more frequently, the therapy offers something previously unimaginable: hope. Parents who once faced only heartbreak now have a reason to believe their children might survive.

The infant's family chose to remain anonymous, but their willingness to try this first-ever treatment may open doors for dozens of other families worldwide facing the same diagnosis.

Gene therapy continues proving it can tackle diseases once considered untreatable, turning genetic sentences into medical challenges we can actually solve.