FOXG1's Nasha Fitter to Speak at The White House Rare Disease Forum for Rare Disease Day 2024

On Wednesday, February 28, as part of the Biden-Harris Administration’s goal to improve health outcomes, the White House Office of Science and Technology Policy will host a forum marking Rare Disease Day and highlighting the Biden-Harris Administration’s commitment to supporting patients and families facing a rare disease and delivering progress against the nearly 10,000 known rare diseases that impact up to 30 million Americans.

Leaders from the Biden-Harris Administration and the private and nonprofit sectors will work together to:

• Elevate the experiences and expertise of people and families facing rare diseases;

• Share developments from the Biden-Harris Administration and rare disease community and learn from one another to accelerate progress;

• and Identify opportunities to improve rare disease diagnosis, advance research and access to innovation to deliver effective treatment, and boost support for patients and families.

WHEN: Wednesday, February 28, 5:30 PM – 7:00 PM ET
WHERE: The White House - The event will be live streamed

FEATURED SPEAKERS: 

• Dr. Arati Prabhakar, Assistant to the President for Science and Technology, Director of the White House Office of Science and Technology Policy

• Dr. Danielle Carnival, Deputy Assistant to the President for the Cancer Moonshot, Deputy Director for Health Outcomes, White House Office of Science and Technology Policy

• Dr. Monica Bertagnolli, Director, National Institutes of Health

• Dr. Renee Wegryzn, Director, Advanced Research Projects Agency for Health

• Nasha Fitter, Co-founder, FOXG1 Research Foundation

• Emily Kramer-Golinkoff, Co-founder, Emily’s Entourage

• Dr. David Fajgenbaum, Co-founder, Every Cure

• Shonta Chambers, Executive Vice President-Health Equity Initiatives and Community Engagement at Patient Advocate Foundation

• Dr. Joni Rutter, Director, National Center for Advancing Translational Sciences

• Tamar Thompson, Vice President, Head of Global Corporate Affairs, Alexion, AstraZeneca Rare Disease

• Dr. Edward Neilan, Chief Medical and Scientific Officer, National Organization for Rare Diseases

• Charlene Son Rigby, Chief Executive Officer, Global Genes

• Tania Simoncelli, Vice President, Science and Society, Chan Zuckerberg Initiative

• Julia Tierney, Deputy Center Director (Strategy, Policy & Legislation), Center for Biologics Evaluation & Research, Food and Drug Administration

• Paul Melmeyer, Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association

• Kim McClellan, President of the Recurrent Respiratory Papillomatosis Foundation

• Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement, EveryLife Foundation

CONTACT:

For White House press inquiries related to this event please email [email protected]

For FOXG1 Research Foundation press inquiries email [email protected]
 
BACKGROUND: The Orphan Drug Act defines a rare disease as a disease or condition that affects fewer than 200,000 people. In the United States, rare diseases affect more than 30 million people in total. Of nearly 10,000 known rare diseases, only 5% have a Food and Drug Administration-approved treatment option.
Recent scientific and technological advancements have provided hope for understanding and delivery of new treatments for rare diseases, but significant work remains to address this critical public health issue that effects about 1 in 10 America

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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ONCE UPON A GENE - The 12 Commandments to Guide You When You're Starting a Rare Disease Patient Advocacy Group. With Nasha Fitter and Mike Graglia

FOXG1 advocate Nasha Fitter and SYNGAP1 advocate Mike Graglia are leaders in the rare disease community and two of the top parent leaders in the advocacy game. In this episode, they're sharing their knowledge, expertise and experiences in an information-packed masterclass on how to build a rare disease patient advocacy group, get funding and forge a path to a cure. 

EPISODE HIGHLIGHTS

Where do you start to launch a rare disease foundation?

The first thing to do is to build your team. If you've just been diagnosed and realized there isn't a patient group for your disease, build your team of other parents and recruit friends and family to help you. The next step is to build a scientific advisory board to go to for advice and guidance.

How does a rare disease foundation make connections with parents and experts?

You'll have to do a lot with little knowledge or resources. As you build your team, encourage others to engage with their network and invite others to join the group. Strive to get roles filled for every category- clinician, geneticist, biotech and translational therapy. 

How does a rare disease patient organization you engage parents?

Repeat your message again and again and realize that getting to a cure isn't a race. Act as a lighthouse to get researchers, clinicians, diagnosed and un-diagnosed families to gather around a common goal. Use the tools within reach- podcasts, newsletters and social media as a digital lighthouse, sending signals out to the community. Get on every platform and engage patients.

What is a rare disease registry and how do you build one? 

It's a legal entity that allows you to collect patient information and disease symptom data. The registry platform should be Institutional Review Board (IRB) approved, which means patients and caregivers have consented to information sharing so they can be counted as a patient and share their information with researchers. Once the registry platform is set up, use social media to explain the benefits and invite patients to join.

How do you develop a path to a cure for your rare disease?

Search for publications and contact the authors to discuss the research and inquire about developing a treatment. Understand the biology of the disease. If you don't have assets, think about the assets that mimic the core of the disease, making models of the disease for testing treatments and drugs and ensure finding are on open access. While you wait for biotech companies to test on your assets, you can create proof of concepts that make sense and are along your path to a cure.

How do you fundraise for your rare disease?

It takes money and you'll need to raise money. You'll never know how much you can raise unless you ask. Invigorate the patient community to raise money and think big.

RESOURCES MENTIONED

ONCE UPON A GENE - EPISODE 047 - Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter

ONCE UPON A GENE - EPISODE 041 - Time is Brain: SYNGAP Research Fund with Mike Graglia

SynGAP10 Podcast

PubMed

Global Genes

COMBINEDBrain

SLC6A1 Connect - Amber Freed

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

Apple Podcasts

Stitcher

Overcast

CONNECT WITH EFFIE PARKS

Website

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Built Ford Tough Facebook Group

Global Genes Podcast: Empowering Rare Disease patients With Their Own Health Recods

Health records can be a rich source of data that can help provide an understanding of a rare disease and drive the development of therapies to treat them. But the siloing of this data, the use of inconsistent terminology, and the unstructured nature of aspects of these records all stand as barriers to harnessing their potential. The consumer health technology company Ciitizen is working to give patients greater control over their own health data and enable its sharing with researchers and providers. We spoke to Nasha Fitter, vice president of rare disease for Ciitizen, about her own experience as a mother of a child with a rare neurologic condition, her work as a rare disease advocate, and a collaboration between a group of rare neurologic disease advocacy organizations to build a natural history study on the Ciitizen platform.

Daniel Levine: Nasha. Thanks for joining us.

Nasha Fitter: Thank you for having me.

Daniel Levine: We’re going to talk about Ciitizen, its healthcare technology platform, and the potential to leverage the data available in electronic health records to drive faster diagnoses and new treatments for rare diseases. Listeners may know you through your work with the FoxG1 Research Foundation, which you co-founded. You became involved in the world of rare disease after your daughter began having seizures. What happened and how was she diagnosed?

Nasha Fitter: Luckily, the fact that she started having seizures got her a diagnosis much faster. She was diagnosed through the epilepsy panel from GeneDx and we found that she had a FoxG1 mutation about three months after she started having seizures. We always think that if she hadn’t had those seizures, it would have taken us years to get to a diagnosis because she would have just had an intellectual disability and we wouldn’t have been offered the ability to get genetic testing.

Daniel Levine: What were you told about FoxG1 at the time she was diagnosed?

Nasha Fitter: Interestingly, I was told not to go online because it would scare me. What I was told is that it affects gross motor, fine motor, communication, most children don’t walk or talk, they eat with a feeding tube, they have hundreds of seizures a day, and movement disorders. This was my first, kind of, information overload and I thought, God, life is over. What can I even do here? I learned going forward that there is a spectrum and there are many things that we can do. That was my first information overload and I think is what most parents receive.

Daniel Levine: How well understood is the condition today and how does it manifest itself and progress?

Nasha Fitter: It’s not understood. That’s why I’ve become so incredibly passionate about the need for data and making that data accessible. There’s not much known about FoxG1 syndrome. There are a limited number of patients. There has been a few research reports published, but it’s always a very small number. It’s a spectrum, like most diseases, and we need more data. We need more information on more patients to get a sense of how this disease manifests change over time.

Daniel Levine: What was the decision you made when you decided to launch the FoxG1 Research Foundation?

Nasha Fitter: It was simply that we need to accelerate finding a cure. Everything I learned is that if you want something done in a rare disease, you’ve got to get together with a group of other parents or patients and do it yourself. No one will care unless you care. It really wasn’t even a decision. I don’t think I even had a choice. It was just something we had to do.

Daniel Levine: The FoxG1 Research Foundation, in my mind, has a very clear strategy and is rather methodical in the way it goes about things. What’s the approach it’s been taking?

Nasha Fitter: That has actually been our number one approach, to be very strategic and very clear on what we’re doing and why we’re doing it. We get flooded with research requests from different scientists. Unless we really know what is absolutely necessary, you can start funding projects that may not necessarily help you get to your end goal. What we did is speak to biotechnology companies and biopharma to understand what it takes to get a drug developed in our children in a way that’s safe. With that understanding, we were able to work backwards on what are the different steps that are necessary for us to get to that point. We’re very ruthless with that. We don’t do anything if it doesn’t fit in that paradigm.

Daniel Levine: It seems to me, a lot of the thinking that’s driven your approach has been to de-risk drug development, so that companies would come into the space. How have you gone about doing that?

Nasha Fitter: That’s what it’s all about. It’s hard and it’s expensive. De-risking means understanding the disease. Companies don’t want to spend endless amounts of money on a disease that is not well understood. To understand a disease, you look at it in a forked approach. One is, to understand it from a biological pathways perspective, and that’s where you need to know the non-human ways that you can model a disease, animal models, stem cell models, et cetera. Then on the flip side is, how we can document what children or patients are going through in a very systematic way. With that combination, and with some proof of concepts, you’ve hopefully de-risked it enough for someone to invest millions of dollars to develop a drug.

Daniel Levine: In that context, how did you come to view the need to gather data and the role it would play in the process?

Nasha Fitter: I was very lucky that early on one of our SAB members, who runs a biotech company, told me if there’s one thing you do, conduct a natural history study. That is something that is really difficult for biopharma to do. It’s hard for biotech companies to access patients and contact patients but as an advocacy group we can do that. I took that to heart and plunged into how we collect good data. There were mistakes we made along the way. We started a registry and we created our own survey, and then later I learned that if it’s not an FDA validated survey, that information is useful internally but won’t be taken seriously. We, kind of, had to start over and get validated surveys, and we’re lucky to be on the Ciitizen platform where we can get rich clinical data, which is really what moves the needle.

Daniel Levine: In addition to your role as CEO of FoxG1, you also serve as the director of rare neurological diseases for Ciitizen. The FoxG1 Research Foundation received a $500,000 grant from Chan-Zuckerberg Initiative to allow groups like yours to use machine learning to accelerate rare disease drug development. This has funded a digital natural history program that FoxG1 syndrome launched with three other rare neurological disease groups in partnership with Ciitizen. Let’s start with Ciitizen. What is Ciitizen for people who are not familiar with the company? What’s the problem it’s trying to solve?

Nasha Fitter: The problem Ciitizen is trying to solve is, can we create an accessible platform where patients can access their own medical records, your raw medical records or your MRIs, and then can share it easily with whomever they want, it’s totally in the patient’s control. Then, can we use those raw medical records to extract relevant information to create natural histories that can then be shared freely and easily with researchers, academic or biotech. That’s kind of what it does. Then, I would say the problems we’re trying to solve are getting second opinions quickly for patients, getting matched to clinical trials, and further developing natural history studies for rare groups and larger groups.

Daniel Levine: How are the various organizations working together on the digital natural history study and what does it ultimately seek to do?

Nasha Fitter: I could not have done this without our pilot groups, the SynGAP Research Fund and TESS Research Foundation. We came together to figure out how we could utilize this platform. Ciitizen started in the oncology space due to our founder’s own personal story of losing his sister to metastatic breast cancer. I really felt that this platform is the future for rare diseases because we need this deep clinical data and we need it fast. We can’t wait three to five years to collect rich natural history data from in-person studies. It was perfect for the problem that we have in rare diseases. It was really TESS Research Foundation and SynGAP that joined us, FoxG1 Research, and, thankfully, CZI believed in us and gave us the grant to do this work. To actually have the first cohorts come onto the platform, sign up, have patients trust us, we’ve collected their medical records, and we’re now in the process of extracting information and creating these rich studies. SynGAP research fund will have data from a rich natural history study on a hundred patients in six months. That’s never been done before in the rare disease space. There’s already a plethora of researchers that are utilizing this data. I’m excited that this year we can showcase how this platform is a game changer for groups like ours.

Daniel Levine: Have you learned anything in the process of doing this about gathering data and improving the way it’s done?

Nasha Fitter: I think Ciitizen has completely gotten down how to collect data quickly. The most challenging part, I learned, is getting patients to come onto the platform. You have your early adopters who are invested in research and will come on. We have a chance with platforms like this to get our entire communities on. All caregivers and patients have to understand that this is a community effort. In rare diseases, you cannot hope that someone else is going to come and solve your problem. This isn’t breast cancer. Everyone has to do their bit. That means joining studies such as these, so we can collect a large cohort of data, as large as possible, to do a really rich study.

Daniel Levine: Is there any insight you’ve gotten into the resistance of patients to participate?

Nasha Fitter: I think this is a new innovative method. People haven’t heard about it before. So, there is a lot of education that’s necessary. Then, rare disease families are busy, they’re exhausted, and they think, is this one more study that I have to do? Will it go anywhere? Will it result in anything? There’s a lot of apathy to do things, which is completely understandable. Unfortunately, we have to work through that apathy to get something done. That’s what we’re hearing and seeing.

Daniel Levine: Because Ciitizen is actually pulling data from electronic health records, how is the burden of participation compared to a more typical natural history study?

Nasha Fitter: It’s a night and day difference. Here, all patients have to do is come onto a platform, get some of their documentation like their child’s birth certificates, et cetera, and take a picture of them so we have it. [This is] versus an in-person study where you’re having to get your special needs child in a car, drive to an academic center, spend half a day there, you may not live near a center and have to fly there, and you have to take days off work. It’s a huge difference in terms of time burden. But I think, many people are wary of technology. They’re wary of data privacy. These are important questions and there’s a lot of education that’s necessary.

Daniel Levine: How was the quality of the information that can be gleaned from electronic health records relative to the typical surveys that make up a natural history study?

Nasha Fitter: That’s a great question. One of the benefits of a platform like Ciitizen is that we can go back and collect 10 years of the data. You’re looking at 10 years of really rich natural history data because everything is collected, every progress report, every clinical note, every MRI, every EEG report. So, we’re able to piece together what is the continuum and true natural history of these patients. There’s not a lot of holes in the data because most patients have been seeing their neurologist or specialists in a consecutive way in order to get services. We’re able to actually pull a very large and deep amount of data. Also, we can normalize it because a physician in one institution may term something differently. I learned myself that there’s 40 different ways you can say heart attack. That normalization is also something that’s very valuable. Our goal is to look at data at the aggregate level. There is still a role for in-person studies and in-person visits because you can ask further questions. I’m really excited about, if there’s things that we want to further ask patients, can we use technology? Can we do video interviews, are there other ways that we can gather data without a patient having to necessarily go into a center? For me, the data can either supplement a current in-person study, or it could be a study in itself.

Daniel Levine: It strikes me that the other thing that’s possible here is, you normally think of groups doing these types of studies in isolation. You’ve got four groups focused on different neurological conditions working together here. Is the expectation that insights gleaned from one will help elucidate the other?

Nasha Fitter: Yes, exactly. We learned so much and there’s a lot we have in common and there are differences. That’s really been the eye-opener—that there is so much in common. We can scale faster through neurodevelopmental disorders. There’s a few things that we’re learning that are different and are very helpful to understand how these diseases differ from each other. That’s why when our foundation wrote the grant we wanted to include a few different groups that were similar in some ways, but also quite different in the types of genes, gene locations on different chromosomes, et cetera, so we could build something that was holistic.

Daniel Levine: You mentioned the challenges of getting patients to participate in the natural history study. What control do patients have over their data and how it’s used and what’s the incentive for them to make use of the Ciitizen platform?

Nasha Fitter: They have complete and total control of their medical records, as well as where the extracted data goes. It’s a completely patient-centric platform. Patients consent, yes I want to share my data with academic and biopharma researchers or I don’t, or I just want to be contacted on a study by study basis. It is completely up to the patient and they can pull their consent at a later date as well. It is very much a patient directed platform. The other thing that sometimes I think gets overlooked is, normally when you have biopharma that are creating these natural history studies, they do them individually. You’ll have company A doing a study for, I’m just going to make up a disease group, like SCN2A patients, and then company B may do a similar study. You’ve got a very small patient pool to begin with and then they have to enroll in two separate studies. That’s what we’re trying to break away from. We can just gather this data and put it on one platform. Then, however many companies that want to access the data can do so. It’s not owned by any one company or any one academic institution.

Daniel Levine: As a matter of disclosure for listeners, I perform work for the collaborative data sharing platform RARE-X. Listeners can hear a discussion that you and I recently had along with Vanessa Vogel-Farley about a partnership that Ciitizen and RARE-X recently entered. While I have you, what will that partnership do, and what does that mean for rare disease patients looking to drive research into their conditions?

Nasha Fitter: The future, how we’re thinking is how do we just accelerate, accelerate, accelerate, getting all this rich information. RARE-X is amazing because they have thought through very carefully, what are the right survey questions that caregivers and patients should take? This is a distinction that there’s some confusion over. There’s two types of data. There’s something called a PRO, which is a patient reported outcome, like a survey that we fill, and then there’s clinical, clinician reported outcomes, which is information that we glean from a medical record. There are two types of data and why the partnership with RARE-X is so powerful is we’re able to combine the expertise of both of those. Information that’s gleaned from PROs and then information that is gleaned from electronic medical records. One of the things I love about RARE-X is they realize that no one platform is going to own everything and be great at everything. The idea here is, we have our expertise, but the only way we’re going to accelerate rare disease is if we can open these pipelines. RARE-X may work with other companies like Ciitizen, and we may work with other organizations like RARE-X, and that is fine. It’s up to the patient or the advocacy group where they want to go. The goal is our platforms should really talk to one another.

Daniel Levine: As you think about the new ways that information technology is enabling people to gather and share information about rare diseases? How do you see this ultimately altering the landscape for patients?

Nasha Fitter: I think this is going to be one of the biggest game changers that we will see in our lifetime because over the next 10 years we will see a massive movement towards precision medicine. That will only work if there’s very granular information on a per patient basis. So, very granular genetic genomic information as well as very granular clinical information that also can be compared to other cohorts. I see the future of medicine very differently than how it is now. I see treatments that are going to be much more effective. We’re going to see better treatments. We’re going to see more transformational treatments. None of that is going to be possible without rich data, easily accessible by everyone in the spectrum.

Daniel Levine: Nasha Fitter, co-founder and CEO FoxG1 Research Foundation and director of rare neurological diseases for Ciitizen. Nasha, thanks as always.

Nasha Fitter: Thank you so much for having me for this important topic. I appreciate it.

"Inside Research with Nasha" - Repurposed Drug Screening for FOXG1

We’re kicking off a new series called “Inside Research with Nasha.”

Our FOXG1 Research strategy is to leave no stone unturned. We’re looking at every possible angle in science to find disease-modifying therapies and ultimately a cure for FOXG1 syndrome and we want to keep everyone informed along the way. We’re also taking this opportunity to really explain what so many buzz words in science mean and how they fit into the research projects we are funding.

Today, we’re very excited to talk about our small molecule drug screening projects. Nasha explains some of those buzz words that covid made mainstream, like high-throughput screening, repurposing, small molecules, and more.

You can find more information about our Research Projects, our Path to a Cure and our FOXG1 Science Team on our website.

Please follow us on social @FOXG1Research so you don’t miss any of our Inside Research updates!

The View Along the Path to a Cure for FOXG1 Syndrome | An Overview by Nasha Fitter

When Amara was diagnosed three years ago, I didn’t even know what a gene was. My background was in technology and business and I wasn’t prepared for the world of science. Luckily, my career had prepared me to tackle an impossible problem that no one has solved before. Being strategic and understanding the various pieces that need to be put together to achieve your end goal is critical in rare disease leadership. I have made mistakes over the past three years, and I have had successes. My goal in this blog series is to share those, and to continue sharing our experiences and journey of the FOXG1 Research Foundation as we work to find a cure for our children and everyone with FOXG1 syndrome.

The first step is to create your destination and strategy. Without those, you cannot motivate people to join your cause. 

In our case, the end destination is not just a singular cure for FOXG1 syndrome. It is to find a host of therapies to help our children. This includes gene editing, gene therapy, RNA therapy, ASO therapy, small molecule therapy, naturopathic therapies. It was clear that for the most part, biopharma would be developing these therapies (or for approved small molecule therapies potentially compassionate use-cases with trials conducted at academic centers). But generally, biopharma was our target. 

After spending a considerable amount of time speaking to various biotech representatives, we realized each one of these therapies could take tens of millions of dollars to develop, and we needed to “de-risk” the investment and make our disease area, FOXG1 syndrome, appealing for industry.

Here are the areas we began focusing on:

1. Organizing patients

   1. FOXG1 Patient Registry 

   2. FOXG1 Patient Biobank

   3. FOXG1 syndrome Parents Facebook Group

2. Understanding the clinical side of FOXG1 syndrome

   1. FOXG1 Patient surveys / registry

   2. FOXG1 Natural History Study

3. Building FOXG1 Assets for testing

   1. HEK lines

   2. IPS lines

   3. Rescue mouse models

   4. Patient specific mouse models

   5. Humanized mouse models

   6. Zebrafish screening platform

   7. Investigating higher order animals

4. Understanding the molecular and cellular pathways of FOXG1 and surrounding area

   1. Characterizing IPS lines

   2. Characterizing animal models

   3. Investing in basic science

5. Conducting screens

   1. Screening ASO targets

   2. Screening small molecule drugs

I will be delving into each of these areas in subsequent blog posts. Below is an info-graph showing the FOXG1 syndrome Path to a Cure. Note that all of our research projects can be found on our website HERE.

Thank you for your interest, and support along our journey towards a cure for FOXG1 syndrome and more.

-Nasha Fitter