A baby with a rare and severe form of epilepsy was recently cured using an experimental gene replacement therapy. After the child started having seizures and experienced developmental decline at just six weeks old, doctors at Clalit-Schneider Children’s Medical Center in Israel identified an inherited genetic defect that causes a rare neurological disorder associated with epilepsy and a high risk of premature death.
The boy received an experimental treatment involving a surgical procedure that delivered a functioning copy of the missing gene directly into his brain. Professor Rami I. Aqeilan of the Hebrew University of Jerusalem was studying the gene associated with the infant’s condition when he discovered its role in neurological development. He then worked with an international team of researchers, clinicians, and biotechnology leaders to develop a gene replacement treatment. After further development, the therapy was approved for use in the baby.
The syndrome is extremely rare, with only 60 to 90 genetic cases identified worldwide, though it is more common among people of Yemeni Jewish ancestry. A month after treatment, the boy has remained clinically stable, has been discharged from the hospital, and has reportedly had no more seizures.
Source: NY POST
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