Scott Reich, an influential New York writer, lawyer and lecturer and his wife Ilissa were ready to go to the ends of the Earth for a chance to save their two-year-old son Eli, who suffers from an extremely rare genetic, neurological syndrome of which there are only 700 known cases in the world.   

The disorder, called FOXG1, has severe consequences on the development of the brain, and Eli’s window of opportunity for heading off damage is closing fast. 

The Reichs didn’t have to go to the ends of the Earth, but only to Israel, where Tel Aviv University’s Blavatnik Center for Drug Discovery (BCDD) exists. “In Israel, we’ll find the know-how, experience and out-of-the-box thinking that we need.” The center’s researchers are now racing against time to find a treatment for his condition. “We are screening a library of about 7,000 FDA-approved substances and have already found some drugs that may help Eli,” said Prof. Ehud Gazit, founder and academic director of BCDD who in December 2019 received an email from the father of Eli, who was only eight months old at the time. 

At first, everything seemed normal – he ate, slept and cried. His big sister, Emelia, loved kissing him, proudly declaring that he was her baby. But something was off. He was extremely irritable and uncomfortable. He screamed for hours on end. He didn’t want to eat because it was too painful to swallow. Doctors said it was just colic, but when Eli’s development slowed and he began missing milestones, we knew something was very wrong.

After countless doctor’s visits, hospital stays, a brain MRI, EEGs, vision tests and more, a genetic test revealed the root cause – FOXG1 Syndrome. As an “orphan disease” that affects only a tiny number of patients – predominantly children who develop severe disabilities – the devastating condition attracts little research and has no cure.

Refusing to give up hope] and determined to save their son, the Reichs searched all over the world for experts who could develop a treatment for the rare syndrome. BCDD, which specializes in the field of drug repurposing (adopting FDA-approved medications and other safe substances to help people with rare diseases) was recommended to them. Dr. Eddy Pichinuk, head of the HTS (High-throughput DNA sequencing  methods and Biological Assays Unit at BCDD, whose team was already conducting research for several other families affected by rare diseases, 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. Essentially, they were looking for any drug originally developed for some other purpose that would increase the amount of FOXG1 protein in Eli’s brain, making up for the damaging deficiency caused by the mutation. 

The researchers were well aware that this might 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. 

“Our screening platform is based on a luminescent protein, expressed in fireflies, that replaces the faulty protein in Eli’s cells,” explained Pichinuk. “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. 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.”

In the next stage, 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, and ultimately, they will test the effect of the chosen drugs on Eli’s nerve cells. Determined and optimistic, they hope for the miracle that will restore more normalized brain development. 

The father remains optimistic. “Reaching out through the American Jewish community and our Israeli friends, we got in touch with the Blavatnik Center, and immediately felt at home. The team is very creative, they work fast and are sincerely dedicated to finding a treatment for FOXG1 syndrome – they’re not just looking to publish a paper in a scientific journal. For us, this genuine commitment is extremely important. The BCDD researchers are doing everything they can so that Eli and others with FOXG1 Syndrome may live and hopefully enjoy more productive lives.”

Dr. Avi Raveh, BCDD’s chief scientific officer, explains that the Center offers a unique research approach, applying personalized medicine methodology to rare diseases. “We respond to requests from families all over the world, often at the last moment before they lose hope. 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. In Eli Reich’s case, with the time window for brain development closing fast, this flexibility is crucial. I truly hope that we can help him.”

“Coming to Israel and working with the BCDD has been a good experience so far,” said Scott. “Thanks to the Israeli spirit of collaboration, we’ve also recruited researchers at the Weizmann Institute of Science in Rehovot and Ben-Gurion University of the Negev in Beersheba to join our mission. 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. This year will be a critical one for the research, and as we await further results, we’re praying for a breakthrough.”

Believe in a Cure, a 501(c)(3) nonprofit foundation set up by Reich with a $7 million fundraising target, commissioned the Blavatnik Center to undertake the research. For more information regarding FOXG1 and Eli Reich, please visit BELIEVE IN A CURE (webelieveinacure.org)