Hope Renewed: Sheba’s Landmark Gene Procedure Paves Way for Genetic Cures

Sheba Medical Center made history when its team of doctors performed gene therapy directly to the brain of 4-year-old Adiroop Kumar from India in a 7-hour surgery. This is the first-ever gene therapy surgery performed in Israel.

Adiroop Kumar, diagnosed at the age of 6 months with AADC deficiency, suffers from a rare genetic disease caused by pathological changes to the Upstaza gene that produces the enzyme AADC. This enzyme is responsible for producing specific hormones, such as dopamine and serotonin, that are required for normal functioning and development of the brain and nervous system, such as necessary processes to lift the head and even walk and talk.

The groundbreaking procedure that involved delivering a healthy Upstaza gene to the brain of Aidroop was conducted as part of a global study on Upstaza gene therapy. Over 30 children have participated in this research in countries such as Taiwan, Japan, China, Ceremony, England, France, and the United States.

The first-of-its-kind gene therapy surgery

The first-of-its-kind surgery, valued at $2.7 million dollars, is the most expensive surgical procedure ever performed in Israel and was provided to Adiroop and his family completely free of charge. The treatment, authorized in Europe and awaiting approval in Israel, was conducted by Sheba’s Dr. Zion Zibly, Head of Sheba’s Department of Neurosurgery, Dr. Lior Ungar, a senior neurosurgeon in the department, and overseen by Prof. Bruria Gidoni-Ben-Zeev, Head of Sheba’s Pediatric Neurology Department.

Up until now, there has been no cure for this disease. Without this surgery, where Sheba’s medical team successfully delivered the healthy gene to Airdoop’s brain, this disease would have spared him very few years to live. In Israel, over ten children have been diagnosed with the condition within the past few years, with approximately two new cases yearly, and four no longer with us.

This is a massive achievement for Sheba as it provides hope for treating other rare genetic diseases and further opportunities for our team at Sheba to give medical relief to patients worldwide.

As Dr. Zibly stated, “We work with hundreds of patients, and each and every one of them has a unique story. The same is true in this case, which fills us with the hope that we will be able to save many more lives in Israel and around the world. We believe that this scientific breakthrough will also serve us in other areas and will allow us to bring relief to many patients,”