Can Israeli innovation save the life of a 2-year-old Jew from New York?

That is what the parents of Eli Reich hope, prompting them to Tel Aviv University for help.

Reich, son of influential New York writer, lawyer and lecturer Scott Reich, was only eight months old when he was diagnosed with FOXG1 syndrome. 

Caused by issues with the FOXG1 proteins, the syndrome causes the child's head to grow far slower than normal. This can lead to a head that is smaller than normal by early childhood, which can have a severe impact on brain development. This itself can lead to severe intellectual disability as well as impairing the development of motor-skills, along with other symptoms.

The neurological disorder is incredibly rare, with only 700 cases known to exist worldwide. As a result, like with many rare diseases, there is little research on the condition, and no cure exists. 

In his quest to save his son, Scott Reich began looking for experts, and found Tel Aviv University's BLAVATNIK CENTER for Drug Discovery (BCDD), which specializes in repurposing FDA-approved medications and other substances to help people with rare diseases. The researchers at BCDD searched for existing drugs that could have the effect of helping with the faulty FOXG1 proteins in the child's body. 

"Our screening platform is based on a luminescent protein, expressed in fireflies, that replaces the faulty protein in Eli's cells," BCDD's HTS and Biological Assays Unit head Dr. Eddy Pichinuk explained in a statement. 

"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."

This one of the many cases the BCDD takes on, with requests coming from all over the world. And according to BCDD's chief scientific officer Dr. Avi Raveh, it is the center's unique structure and methodology that is their biggest advantage, giving them access to accelerate the process in time-sensitive cases.

"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 explained. 

"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."

For Eli's parents, working with BCDD has been a positive experience, and has led them to bring in other Israeli institutions on to their case.

"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," Scott Reich explained. 

"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."

He added that: "2021 will be a critical year for the research, and as we await further results, we’re praying for a breakthrough."