Israeli researchers hope to save New York toddler with extremely rare brain disorder
The team from Tel Aviv University’s BLAVATNIK CENTER for Drug Discovery aim is to find a drug originally developed for some other purpose that will increase the amount of an important protein needed for brain development
By ILANIT CHERNICK
Israeli technology developed by Tel Aviv University could save the life of a two-year-old boy from New York who is suffering from a neurological syndrome known as FOXG1.
The syndrome, which severely impairs the brain’s development and is predominantly found in small children, is extremely rare with only about 700 known cases worldwide.
According to Tel Aviv University, the little boy’s father, Scott Reich, contacted Prof. Ehud Gazit, Founder and Academic Director of the BLAVATNIK CENTER for Drug Discovery (BCDD) in 2019 looking for a miracle to save his son, Eli, who was eight months old at the time.
With little research done on the disease because of its rarity, Scott was willing to move mountains for Eli and that’s what led him to the BCDD, which specializes in the field of drug repurposing.
“[We look at] repurposing FDA-approved medications and other safe substances to help people with rare diseases, [that are] all too often overlooked by the big pharmaceutical companies,” explained Dr. Eddy Pichinuk, Head of the HTS and Biological Assays Unit at the BCDD. “[My] team was already conducting research for several other families affected by rare diseases, [and we were] willingly accepted the new challenge.”
Pichinuk and his team quickly obtained a sample of Eli’s cells, which had been deposited in a biobank for rare disease biosamples, and established a personalized drug-screening platform to test these cells against known, safe, FDA-approved molecules that could be repurposed.
The team’s essential aim is to find a drug that had originally developed for some other purpose but would increase the amount of FOXG1 protein in Eli’s brain and make up for the damaging deficiency caused by the mutation.
“The researchers were aware that this could be Eli’s only hope for a more normal life: once a safe and effective drug is identified, it can be repurposed to offer Eli and others like him compassionate treatment,” the university said.
Pichinuk explained that their “screening platform is based on a luminescent protein, expressed in fireflies, that replaces the faulty protein in Eli’s cells.”
“We are screening a library of about 7,000 FDA-approved substances, initially developed to treat a range of diseases, such as cancer, psychiatric disorders, or various inflammatory syndromes,” he said. “By testing each drug’s interaction with the marked protein in Eli’s cells, we have so far discovered several potentially helpful drug candidates. As we begin to see the light at the end of the tunnel, we continue to search for additional drugs.”
Pichinuk stressed that as part of the next stage of the search, the researchers “will use advanced methods of genetic engineering to transform skin samples from Eli and his parents into stem cells and then into neurons. Ultimately, they will test the effect of the chosen drugs on Eli’s neurons.”
He added that they are determined and optimistic in the search to help Eli.
BCDD’s Chief Scientific Officer, Dr. Avi Raveh said that the center offers a unique research approach, applying personalized medicine methodology to each rare disease they come up against.
“We respond to requests from families all over the world, often at the last moment before they lose hope,” he explained. “Unlike large research institutions, we resemble a small and dynamic startup, eliminating or speeding up any bureaucracy and getting right down to the crux of the challenge.”
Raveh added that in Eli case, “with the time window for brain development closing fast, this flexibility is crucial. I truly hope that we can help him.”
Despite the struggles that the family is going through, Reich remains hopeful.
“When we heard the devastating diagnosis, I said to my wife Ilissa, ‘We have to go to Israel. In Israel, we’ll find the know-how, experience and out-of-the-box thinking that we need,’” he recalled. “Reaching out through the American Jewish community and our Israeli friends, we got in touch with the BLAVATNIK CENTER, and immediately felt at home.”
Reich emphasized that the team is very creative, work fast and is sincerely dedicated to finding a treatment for FOXG1 syndrome.
“They’re not just looking to publish a paper in a scientific journal,” Reich pointed out. “For us, this genuine commitment is extremely important. The BCDD team is doing everything they can so that Eli and others with FOXG1 Syndrome may live and hopefully enjoy more productive lives.”
For Reich, the experience of coming to Israel and working with the BCDD has been really positive so far. “Thanks to the Israeli spirit of collaboration, we’ve also recruited researchers at the Weizmann Institute of Science and Ben-Gurion University of the Negev to join our mission,” he continued. “Being Jewish, we feel emotionally comfortable in Israel, so this partnership was a natural fit for us in our battle to save our son and help others with FOXG1 Syndrome.”
Concluding, Reich said that “2021 will be a critical year for the research, and as we await further results – we’re praying for a breakthrough.”
*Featured Image: The Reich Family. (Photo Credit: Supplied)