Israeli researchers develop tailor-made drug for child with rare genetic mutation - Jerusalem Post Staff

 

by Jerusalem Post Staff

Against all odds, researchers developed an RNA drug to "silence" a defective gene copy, offering a path to improved quality of life for a child with a rare developmental disorder.

 

Sheba Medical Center

(photo credit: Omer Pichman, Flash 90) 

A team of researchers at Sheba Medical Center in Tel Hashomer developed a personalized genetic drug for an eight-year-old girl with a rare neurodevelopmental disorder caused by a mutation. 

This marks a first for Israeli medical innovation, and is one of only few instances worldwide.

The Health Ministry approved the first dose of the treatment for the patient under the compassionate use program, which allows patients with serious or life-threatening conditions to access experimental drugs and treatments that are not yet approved for public use. 

The treatment is an RNA-based drug, which uses a specialized technology (ASO) to create small pieces of genetic material. These pieces act like microscopic tools that block the faulty instruction from the GNAO1 gene. Because that defective gene causes major problems like developmental delays and uncontrolled movements, blocking it is key.

In lab tests, scientists grew nerve cells from the patient's skin samples. They found that the drug has produced positive results, reducing the defective gene's harmful activity by up to 75%. This success was confirmed by measuring improvements both in the cell's basic biology and its overall function.

Prof. Dekel wears many hats as a physician-scientist. (credit: SHEBA MEDICAL CENTER)

Sheba puts Israel at the forefront of RNA therapy

“The ability to develop a personalized drug tailored to a patient’s genetic sequence within a world-leading medical center, and in such a short time, reflects the revolution currently transforming medicine,” said Head of Sheba’s Diagnostic Division and Deputy Director of the Research Authority, Dr. Dan Dominissini. 

“RNA is at the heart of next-generation precision medicine, and Sheba is placing Israel at the forefront of this field,” said Professor Bruria Ben-Zeev, former Director of the Pediatric Neurology Unit at Sheba’s Safra Children’s Hospital. 

Until now, no drug treatment has been developed to treat the disease, with only symptomatic therapies available for use. But now, according to Professor Bruria, “For the child and her family, this represents a tangible hope for improved daily functioning and quality of life. We anticipate that in the future, this approach will be expanded to help additional children with rare diseases for which no treatments currently exist.”

The development team from Sheba included Dr. Dan Dominissini, Head of the Diagnostic Division and Deputy Director of the Research Authority; Dr. Nofer Mor, Head of the RNA Therapy Research Group; Prof. Gidi Rechavi, Director of the Cancer Research Center; and Prof. Bruria Ben-Zeev, together with a multidisciplinary team of leading researchers and physicians.

Jerusalem Post Staff

Source: https://www.jpost.com/health-and-wellness/article-873962

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