By Yakir Benzion, United With Israel -
Researchers in Israel have been recruited in the war being waged by New York parents Ilissa and Scott Reich to save the life of their two-year-old son Eli, who was born with a rare genetic disorder.
Eli was born with the FOXG1 neurological syndrome – a devastating condition caused by a mutation in the FOXG1 gene that reduces the amount of a protein critical for brain development. There’s no cure. There are no clinical trials. Existing research is limited.
There are only about 700 known cases of FOXG1 worldwide, almost all in small children, the Jewish Press noted.
In his quest to help his son, leading experts told Scott to get in touch with the Blavatnik Center for Drug Discovery (BCDD) at Tel Aviv University, where he found BCDD founder and director Prof. Ehud Gazit.
The BCDD specializes in the field of drug repurposing: a strategy for identifying new uses for FDA-approved medications and other safe substances to help people with rare diseases, all too often overlooked by the big pharmaceutical companies.
Since late 2019, Gazit’s team has used a sample of DNA from Eli to screen some 7,000 FDA-approved medicines and have identified at least five drugs they hope will be able to help other children suffering from the syndrome as well, Times of Israel reported.
The Reichs are fighting as hard as they can and have established a new charitable foundation, Believe in a Cure, to find and fund the best scientists in the world to develop therapies that would improve the lives of FOXG1 patients.
The FOXG1 gene plays a critical role in brain development because it regulates several other genes in the brain. The syndrome causes the gene not to produce the right amount of the protein required for the brain to grow, thus preventing normal development. Smptoms include visual impairment, uncontrolled movements, sleep disorder, seizures and more. Few children with the syndrome live beyond their teen years.
“To receive such a diagnosis is like receiving a repeated punch to the gut … It is truly a parent’s nightmare,” the Reichs wrote on their website.
“When we heard the devastating diagnosis, I said to my wife Ilissa: ‘We have to go to Israel,’” Reich told Times of Israel. “In Israel, we’ll find the know-how, experience and out-of-the-box thinking that we need.”
Reich is now more hopeful than ever that the drugs will soon be administered to Eli. “I’m praying for a breakthrough.”
Researcher Dr. Eddy Pichinuk, a member of Gazit’s team, said it will take a few more months to move forward because the drugs first have to be validated on lab mice with the same genetic mutation.
“Time is very critical because the window of opportunity is closing, but we hope that we can get the drugs approved for him in time, before the completion of his brain’s development, after which point drugs wouldn’t be effective,” Pichinuk said.
One of the out-of-the-box steps by the Israeli team is the use of DNA from fireflies to replace the faulty protein in Eli’s cells. The firefly protein responds to drugs in a similar way to that of FOXG1, Pichinuk said, with the added bonus that because the protein is luminescent, it enables the researchers to monitor it more easily.
More testing needs to be done, and Believe in a Cure is raising $7 million to help fund the research.
“We can’t help in every case and with every disease, but here there was a chance, and now I’m very optimistic,” BCDD chief scientific officer Dr. Avi Raveh, told the Times.”As time goes by I feel more pain and frustration for the family, but I admire their positivity.”
