The Quest for A Lifesaving Cure

Written on |

Innovative technology of BLAVATNIK CENTER for Drug Discovery may save boy suffering from rare neurological syndrome.

In December 2019, the BLAVATNIK CENTER for Drug Discovery at Tel Aviv University was presented with a challenge which demanded flexibility and thinking outside the box.

Prof. Ehud Gazit, Founder and Academic Director of the BLAVATNIK CENTER for Drug Discovery at Tel Aviv University, received an email from Scott Reich, a very worried father. Scott’s son Eli, only eight months old at the time, had just been diagnosed with the ultra-rare FOXG1 syndrome, a neurological disorder that severely impacts brain development. With only about 700 known cases worldwide, predominantly children with severe disabilities, this devastating condition attracts little research and has no cure.

Determined to save his son, Scott searched all over the world for experts who could develop a treatment for the rare syndrome. The advice and recommendations of leading scientists and health professionals led him to the BLAVATNIK CENTER at TAU in Israel, which specializes in the field of drug repurposing: repurposing FDA-approved medications and other safe substances to help people with rare diseases, all too often overlooked by the big pharmaceutical companies.

Dr. Eddy Pichinuk, Head of the HTS and Biological Assays Unit at BLAVATNIK CENTER, whose team was already conducting research for several other families affected by rare diseases, willingly accepted the new challenge. 

Dr 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,” explains Eddy. “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. Ultimately, they will test the effect of the chosen drugs on Eli’s neurons. Determined and optimistic, they aim to restore more normalized brain development.

Thinking Outside the Box

Dr. Avi Raveh, the BLAVATNIK CENTER’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 BLAVATNIK CENTER has been a good experience so far,” says Scott. Thanks to the Israeli spirit of collaboration, researchers at the Weizmann Institute of Science and Ben-Gurion University of the Negev have also been recruited to join the mission of saving Eli. He 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.’ Reaching out through the American Jewish community and our Israeli friends, we got in touch with the BLAVATNIK CENTER for Drug Discovery, 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 BLAVATNIK CENTER team is doing everything they can so that Eli and others with FOXG1 Syndrome may live and hopefully enjoy more productive lives.”

For more information about FOXG1 and Eli Reich, please visit BELIEVE IN A CURE

Featured image: The Reich Familiy

related posts

Recruiting ‘Fighting Cells’ to Destroy Tumors

September 14, 2021

TAU Team Reverses Early Signs of Alzheimer’s

September 10, 2021

Nicotine Testing of Children Curbs Parents’ Smoking

September 5, 2021

The Silent Prophets

August 31, 2021

Want to Fall in Love? Step Outside in The Sun

August 30, 2021

First 3D-bioprinting of entire active tumor

August 18, 2021

New Warning Sign for Breast Cancer

August 6, 2021

COVID-19 Immunity Varies Among Genders and Age Groups

July 25, 2021

New study found differences between women and men in the level of COVID-19 antibodies

July 15, 2021

A world first: Technology that restores the sense of touch in nerves damaged as a result of amputation or injury

July 15, 2021

New nanotech from TAU produces “healthy” electric current from the human body itself

July 9, 2021

Want to Live a Long Life? Consider Investing in Your Marriage.

July 2, 2021

A world first: Targeted delivery of therapeutic RNAs only to cancer cells, with no harm caused to healthy cells

June 30, 2021

Combating Antibiotic Resistance

June 22, 2021

Diamonds in the Rough

June 3, 2021

How Will We Brave the Post-COVID Era?

May 31, 2021

Are We Getting to the Root of Cancer?

May 3, 2021

Optical Technology Generates Immediate Melanoma Diagnosis

April 27, 2021

Gut Healing

April 25, 2021

Could Your Smartphone Be Damaging Your Teeth?

April 4, 2021

A Healthier Alternative to Antibiotics

February 24, 2021

Children with Autism during Lockdown: Serious Implications for Behavior and Development

February 22, 2021

Cancer Breakthrough: Cells’ Uniqueness is Also Weakness

January 29, 2021

TAU Scientists Develop Innovative Therapy to Prevent Deafness

December 28, 2020

Two TAU Professors Win 2020 Nature Mentoring Award

December 28, 2020

Lack of Teacher Support during Pandemic Causes Acute Emotional Harm

December 4, 2020

New Discovery: Development of the Inner Ear in Embryos is Similar to Crystal Formation

November 26, 2020

In First, Aging Stopped in Humans: TAU Co-Study

November 23, 2020

TAU developed genome editing system destroys cancer cells

November 20, 2020

TAU Co-Study: “Green Revolution” Decreased Infant Mortality

November 17, 2020

Study: Women Suffer More from COVID-related Orofacial Pain

November 12, 2020

Global First: Center for Combating Pandemics

October 22, 2020

TAU Researchers Discover Antibody Combo that Fights COVID-19

October 12, 2020

Researchers Identified the Genetic Causes of Inherited Hearing Loss in the Jewish Population of Israel

September 30, 2020

Targeting Melanoma

September 9, 2020

TAU Inaugurates Shmunis School of Biomedicine and Cancer Research

September 8, 2020

Physical exercise can help improve both physical and mental health

August 31, 2020

New school for Biomedicine and Cancer Research at Tel Aviv University

August 13, 2020

An Experimental Drug for Alzheimer’s May Help Children with Autism

August 5, 2020

TAU Study: Stimulating Immune System Prevents Post-Surgery Metastasis

July 27, 2020

TAU Researcher Fights Epidemics Both Viral and Virtual

July 23, 2020

TAU study: Oxygen therapy improves cognitive function in seniors

July 16, 2020

TAU-led Team Destroys Cancer Cells with Ultrasound

July 9, 2020

New nanomedicines for mRNA therapeutics in breast cancer and heart failure

July 6, 2020

3D printed heart used to test life-saving drugs

June 29, 2020

Did climate change cause infections 6,000 years ago?

May 21, 2020

Accurate 3D imaging could significantly improve IVF treatments

May 18, 2020

TAU study finds widespread misinterpretation of gene expression data

December 26, 2019

Fibroblasts involved in healing spur tumor growth in cancer

December 23, 2019

Eating in sync with biological clock could replace diabetes treatment

December 15, 2019
Ontario and Western Canada

3130 Bathurst Street, Suite, 214, Toronto, ON | M6A 2A1 
Phone: 416.787.9930 | Toll Free: 833.32.CFTAU (22328)
Email: toronto@cftau.ca

Ottawa, Quebec and Atlantic Canada

6900 Boulevard Décarie, Suite 3480, Montreal, QC | H3X 2T8
Phone: 514.344.3417
Email: montreal@cftau.ca


© CFTAU  | all rights reserved
Charitable registration: 124035643RR0001

TO TOP