FRF Appoints Chief Drug Development Officer, Dr. Gai Ayalon

We’re thrilled to announce the appointment of Dr. Gai Ayalon as the Chief Drug Development Officer of the FOXG1 Research Foundation (FRF).

Dr. Ayalon is a distinguished neuroscientist and drug developer, who over many years led teams and spearheaded drug development programs for neurological diseases including rare neurodevelopmental disorders, spanning the discovery, translation and clinical phases. He joins our foundation at a critical and pivotal juncture as we enter Phase Four on our Path to a Cure, taking programs through safety studies and clinical trials. 

We have successfully accomplished Phase One through Three on our Path to a Cure: building disease models, studying these models, and testing gene therapies, ASO's, CRISPRa and saRNA therapies on our models. These early experiments have shown that we can upregulate FOXG1 gene and protein levels, we can do so safely, and we can rescue key symptoms in animals such as motor function, cognition and corpus callosum degeneration. Dr. Ayalon will now lead this next phase by taking our therapeutic programs, one by one, to clinical trials. In order to do this we will be performing activities such as vector optimization, exploratory toxicology, GLP manufacturing and toxicology, and completing regulatory filings. 

Dr. Ayalon previously worked at Ultragenyx Pharmaceutical, where he was the Project Team Leader of programs for pediatric neurodevelopmental disorders such as Angelman syndrome. Prior to Ultragenyx, Dr. Ayalon was a scientist at Genentech, in the neuroscience department. At Genentech he led drug discovery programs and teams focused on immunotherapeutic approaches to neurodegenerative diseases. 

Most recently, Dr. Ayalon was Vice President, Head of the Portfolio and Program Management group at Neumora Therapeutics, where he also led clinical stage programs for neuropsychiatric disorders. Dr. Ayalon received his Ph.D. from the Hebrew University Medical School in Jerusalem, Israel, and conducted his postdoctoral research at the Howard Hughes Medical Institute at the Duke University Medical Center.  

In his new role as Chief Drug Development Officer, Dr. Ayalon will navigate the FOXG1 Research Foundation through clinical drug development, working closely with Dr. Soo-Kyung Lee’s lab at the University at Buffalo, as well as the FOXG1 Scientific Consortium of labs, and our global biopharma and clinical partners.  

We cannot be more optimistic about joining hands with Dr. Ayalon for this next chapter in our journey to greatly improve the lives of every patient and the families affected by FOXG1 syndrome. 

CareTalk Podcast: Why Rare Disease Research is SO Important

Rare Disease Research and Its Potential To Unlock Medical Mysteries

We now live in an age where we are closer to being able to decipher the greatest medical mysteries than ever before. Rare diseases, which were once thought of as untreatable cases, could be at the forefront of unlocking some remarkable discoveries with their unique characteristics and symptoms.

With so many possibilities available for medical professionals looking into rare disease research and treatments, it is becoming increasingly important for healthcare workers and business alike to understand just how powerful this form of research can be. Not only will exploring this topic enables us to further dedicate resources towards pioneering treatments that may have previously been overlooked—but also provide a brighter outlook on potential cures for those affected by these and other conditions.

In an episode of the healthcare podcast, CareTalk: Healthcare. Unfiltered., titled “Why Rare Disease Research is So Important” co-host, David Williams is joined by Nasha Fitter, CEO of FOXG1 Research Foundation, which is dedicated to finding a cure for FoxG1 Syndrome and Vice President of RWE and Ciitizen Platform at Invitae, to shed light on the importance of rare disease research, the challenges it faces, and the promising developments in this field.

Understanding Rare Diseases: What They Are and Why They Matter

A rare disease is a medical condition that affects only a small number of people compared to the general population. The exact definition of a rare disease varies depending on the country and the organization providing the classification. In the United States, a rare disease is defined as one that affects fewer than 200,000 people, while in Europe, a disease is considered rare if it affects fewer than 1 in 2,000 people. Although each rare disease affects a small number of people, there are thousands of different rare diseases, and as many as 300 million people worldwide are living with a rare disease.

Genetic mutations or environmental factors can give rise to these conditions, with many having no cure or treatment. Despite their significance, rare diseases are often overlooked and lack funding, leaving those affected and their families to grapple with the consequences. Those living with rare diseases frequently face challenges in obtaining an accurate and timely diagnosis, and their families may have limited resources for treatment and support. Progress in research and treatment is essential to enhance quality healthcare for patients with rare diseases and their loved ones.

“Rare diseases are not that rare. When you add up all the, all the conditions and you know, now we're actually up closer to 10,000. But the truth is, the majority of rare diseases are actually defined as ultra-rare, where you have less than 2000 patients in the United States, and that is the big chunk of the problem”. – Nasha (CareTalk)

Rare Disease Research: The Path to Discovering Treatments and Cures

Rare disease research is a complex and intricate field that requires substantial expertise and resources. Scientists, physicians, and patient advocates pool their knowledge and expertise to identify and study rare diseases. Through a combination of laboratory experiments, clinical studies, and patient surveys, these experts aim to shed light on the underlying causes of rare diseases, as well as potential treatments.

“Only about 5% of the 7,000 or so known rare diseases have treatments, so that makes it a real challenge for families, foundations, pharma companies, anybody trying to do something about it. But there is hope, including the Orphan Drug Act, FDA, programs to speed development, advances in genomics, and the digitization and interconnectivity of patient data”. – David (CareTalk)

Struggles and Limitations of Rare Disease Research

Rare disease research faces a myriad of challenges that hinder progress towards finding effective treatments for those affected. One of the primary issues is the lack of funding available for research, as these diseases do not affect a large population. This leads to a lack of resources, expertise, and technology needed to conduct thorough research. The vast diversity in rare diseases makes it challenging to conduct clinical trials with large enough sample sizes to provide reliable data.

Further complicating matters, diagnostic tools may not exist, making it difficult to properly identify the disease in question. Additionally, there is a lack of interest amongst pharmaceutical companies, as marketing drugs for rare or orphan diseases may not be as profitable. These limitations necessitate a collective effort to raise awareness and shift priorities, as finding cures for rare diseases is crucial for both the affected individuals and the advancement of medicine as a whole.

“I think there's a lot more we can do to innovate and make this experience better and mainly just have clinical trials that are more effective. Even with everything we're doing, the majority of clinical trials fail. So we need better ways to track endpoints to make sure that, you know, these drugs actually have a therapeutic effect on patients track that effect”. - Nasha (CareTalk)

Promising Benefits and Advancements in Rare Disease Research

Advancements in rare disease research hold great promise for patients and families affected by these conditions. With the development of technologies like genome editing and CRISPR-Cas9, scientists now have unprecedented insights into the underlying genetic causes of rare diseases. This knowledge is driving the development of targeted therapies that can address these causes at their source, offering hope for improved outcomes and quality of life.

Additionally, advances in diagnostics and data sharing are enabling more accurate and rapid identification of rare diseases, reducing the time to diagnosis and improving access to appropriate care. Despite its many challenges, the benefits of this research are immeasurable. By understanding the underlying biological mechanisms of rare diseases, researchers can shed light on basic biological processes, leading to the development of new diagnostic tools and therapeutic options for patients with rare and common diseases alike.

Furthermore, rare disease research has the potential to uncover novel drug targets and biological pathways, ultimately contributing to a deeper understanding of human health and disease. As the field of rare disease research continues to grow and evolve, we can expect to see even more promising developments on the horizon.

“There’re ways that we need to think about innovative trial design. The good news is that there are a lot of companies innovating in the space. A lot of organizations looking for better endpoints, better biomarkers and the FDA is open to listen and so, and I think the F D A basically needs to be convinced”. - Nasha (CareTalk)

How Can Improvements in Rare Disease Research Help Unlock Cures and Treatments for Other Diseases?

Looking ahead, proactive research into rare diseases holds great potential for medical advancement. While it is impossible to predict the exact outcome of such work, the promising results call for greater investment and collaboration across institutions. As breakthroughs in rare disease treatment hold potential implications far beyond their specific clinical application, there is tremendous potential to unlock cures that may be applicable to a broad range of unexplainable illnesses.

By taking the time to further invest in research on these rare diseases and collaborating with multiple resources and experts, we can help find ways to ease suffering for many and better understand why certain treatments work or don’t work. It is our hope that increased access to research opportunities will bring about great advances in medicine that make these mysteries a thing of the past.

FOXG1 Research Foundation Co-Founder, CEO Nasha Fitter joins CareTalk Podcast to shed light on the importance of rare disease research, the challenges it faces, and the promising developments in this field.

Listen to this episode on Spotify Here

ABOUT CARETALK

CareTalk is the only healthcare podcast that tells it like it is. Join hosts John Driscoll (President U.S. Healthcare and EVP, Walgreens Boots Alliance) and David Williams (President, Health Business Group) as they provide an incisive, no B.S. view of the US healthcare industry.

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The Rare Disease Crusaders

A feature about our FOXG1 Research CEO and Co-founder Nasha Fitter from the Ciitizen Blog…

My daughter was seven months old when she had her first seizure. It scared me to death, and her spells would continue for months until we discovered the reason:

she suffers from a severe and rare neurodevelopmental disorder called FOXG1 syndrome. 

It wasn’t until weeks after her diagnosis that I found the courage to go online and read about the condition: due to a genetic protein deficiency children experience severe intellectual disability, epileptic symptoms, and many never walk or talk for their entire lives.

I vomited immediately after reading that. 

The subsequent months were full of terror and grief, but eventually my sadness evolved into determination and I took action, joining a group of parents like me who were piggybacking on a wave of scientific progress to find cures for their children’s rare disorders. Today, we call ourselves the Rare Disease Crusaders.

Considering the amount of energy and campaigning required to find answers for our kids, I think “crusader” sums up our struggle quite accurately. We have become de facto pediatricians, neurologists and scientists, as many doctors have never heard of FOXG1. We have developed mouse models, learned how to turn skin cells into neurons and spoken directly with biopharma about gene and antisense therapies. 

Yet, no matter how much we learn about our children, we’re lacking the one informational resource that can actually move the needle in transforming their lives: aggregated clinical data.

Computational data is the key to medical research. Without it, no biotech company will invest the time or the money to find therapies for our children, and we have neither the time nor the capacity to keep educating the medical industry on our own.

Having spent the majority of my career in tech, I am still fairly confused as to why healthcare  operates in the dark when so many other industries have successfully used data to solve major problems. I don’t understand why our neurologist doesn’t have access to a database of medications for FOXG1 patients around the world. I’m terrified by the fact that she is making decisions for my child and prescribing her heavy antipsychotic drugs based on a limited experience from treating two other FOXG1 children.

Research is also failing us. Natural History Studies—when researchers collect clinical information on a group of patients and use that data to inform drug development—are done in a completely archaic manner. If we are lucky enough to find someone who has spent the millions of dollars necessary to sponsor a Natural History Study for our specific disease, we then have to fly or drive our medically fragile children to a few select academic institutions that may or may not be anywhere near our home.

Once there, they ask us the same questions that we answer for our local neurologists every few months. Once we’ve given them our information, neither they, nor our biopharma partners, can access the aggregated data we need to improve research because many of these institutions don’t share.

But given that every patient has a right to their own medical data, there’s a solution right in front of us: we take control of our own medical records and share them to create the database we need.

I joined Ciitizen and initiated our entry into neurological diseases because I am both passionate and desperate to find an answer for my daughter. At Ciitizen, we’re creating a platform where medical records are collected on behalf of each patient, then automatically digitized into the computational data we need. From there, sophisticated machine learning technology is used to extract clinical data in order to create regulatory-grade Natural History Studies that do not require exorbitant amounts of time, energy, or money. Patient reported outcomes can then be added by us parents. 

More importantly, this database of computational data we’re creating will be accessible and open to all patients, parents, caregivers, clinicians, academics, and biopharma researchers. Our goal is to eliminate the slow, manual, and expensive processes that we currently use to collect information and use the best technologies to be quick, cost-effective and more accurate when it comes to developing research.

I am eager for the day I can search this database for “movement disorder” and find exactly what medications other FOXG1 children and children affected by similar neurodevelopmental disorders are using, and which are most effective. I am eager for my fellow Rare Disease Crusaders to tell biopharma there is a platform available where they can easily access Natural History Studies, and clearly see that our diseases are worth investing in. 

At four years old, my daughter is still completely non-verbal. I’m hoping I can one day hear her speak. Only in my dreams does she come up to me and say, “Mama, I love you.” 

Nasha Fitter leads the rare and neurological initiatives for Ciitizen and is the CEO of the FOXG1 Research Foundation (http://foxg1research.org)