JERUSALEM, Israel โ Physicians at Clalit Health Services’ Schneider Children’s Medical Center have achieved what medical experts describe as a world first by successfully delivering a healthy replacement gene directly into the brain of an eight-month-old infant suffering from a rare and previously untreatable genetic neurological disorder.
The groundbreaking procedure marks the first time a human patient has received an experimental therapy designed to replace a missing gene responsible for a devastating brain disease that previously offered virtually no chance of survival.
The treatment was performed at Schneider Children’s Medical Center, part of Clalit Health Services, Israel’s largest healthcare organization, following an extraordinary international collaboration involving Israeli physicians, scientists, biotechnology leaders, and regulatory authorities who worked together under emergency approvals to bring the experimental therapy to a child with rapidly deteriorating neurological function.
Hospital officials described the procedure as a landmark achievement for personalized genetic medicine and a potential turning point in the treatment of rare inherited neurological disorders.
Race Against Time
The breakthrough began when the infant was admitted to Schneider Children’s Medical Center after suffering seizures and significant developmental decline.
Dr. Naama Ornstein, head of the Genetics Unit at Schneider Children’s Medical Center, immediately recognized the extremely rare disorder.
Years earlier, Ornstein had treated another child diagnosed with the same disease. At that time, however, no experimental therapy was available, and the child died.
Determined not to lose another patient, Ornstein began searching for every possible treatment option.
Working closely with the hospital’s multidisciplinary genetics team and Dr. Dror Kraus, a senior physician in the Neurology Unit and epilepsy specialist who had overseen the child’s neurological care since admission, the team identified a potential experimental therapy that had never before been administered to a human patient.
The challenge was turning years of laboratory research into an emergency clinical treatment before the child’s condition deteriorated beyond recovery.
International Collaboration
Ornstein contacted Professor Rami I. Aqeilan of the Hebrew University of Jerusalem, whose scientific research had led to the development of the replacement gene therapy.
Professor Aqeilan’s laboratory discoveries had subsequently been licensed and advanced toward clinical development by a United States biotechnology company led by an Israeli-born physician and chief executive officer.
The collaboration united experts from academic research, clinical medicine, biotechnology, and government regulation to save the infant’s life.
Together, the international team secured emergency authorization to administer the treatment despite it having never previously been used in a human patient.
The approvals required close coordination among Israeli health authorities, regulatory experts, and international oversight bodies.
Delivering the Missing Gene
The procedure itself represented an extraordinary technical achievement.
Dr. Ido Ben Zvi, a neurosurgeon at Schneider Children’s Medical Center, performed the delicate operation by injecting a functioning copy of the missing gene directly into the infant’s brain.
The treatment utilized a specially engineered viral vector designed to transport the healthy gene safely into cells within the central nervous system.
Unlike conventional medications that circulate throughout the body, the therapy required direct delivery into the brain, allowing physicians to target the neurological disorder at its source.
Doctors said dosage calculations were exceptionally complex because the amount of genetic material had to be precisely tailored to the infant’s developing brain.
Even small variations could have affected the treatment’s safety or effectiveness.
A Historic Milestone
For physicians involved in the case, the procedure represented more than a scientific achievement.
“This was much more than a medical procedure,” Dr. Ornstein said.
“It was a fight for a child’s chance to smile, develop, and live.”
She said families affected by rare genetic diseases often ask a seemingly simple question.
“If a child is missing a working gene, why can’t we simply give them one?”
“Usually, we have no answer,” Ornstein said.
“This time, for the first time in the world, we could.”
The infant has since been discharged from the hospital and continues to receive close neurological monitoring as physicians evaluate the therapy’s long-term effects.
While it remains too early to determine the full clinical outcome, doctors say the successful delivery of the replacement gene itself represents a historic milestone in the evolution of precision medicine.
New Possibilities for Personalized Medicine
Experts believe the achievement could have implications extending well beyond this single patient.
Gene replacement therapies are increasingly viewed as one of the most promising frontiers in modern medicine, particularly for inherited diseases caused by defects in a single gene.
Until recently, many rare neurological disorders were considered untreatable because physicians lacked methods to deliver replacement genes safely into the brain.
The success of this procedure may provide valuable knowledge for future clinical trials involving other inherited neurological diseases affecting infants and children.
Researchers caution, however, that additional monitoring and future studies will be necessary before similar therapies become widely available.
Science Beyond Borders
Hospital officials also highlighted the collaboration behind the treatment.
The project brought together an Israeli physician, an Arab scientist from the Hebrew University of Jerusalem, and the Israeli-born chief executive of an American biotechnology company in a shared effort to save the life of a child.
The cooperation demonstrated how scientific research, medical innovation, and international partnerships can overcome institutional and geographic barriers when addressing life-threatening diseases.
For Clalit Health Services and Schneider Children’s Medical Center, the procedure represents both a milestone for Israeli medicine and an example of the country’s growing role in advancing precision medicine and gene therapy.
As physicians continue monitoring the infant’s recovery, the world will be watching closely.
The treatment has already secured its place in medical history as the first successful attempt to replace a missing gene by delivering it directly into a human infant’s brain, opening a new chapter in the treatment of rare genetic diseases.
