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

Seizure Action Plan: World Epilepsy Day

February 12th is World Epilepsy Day, and epilepsy is one of the most debilitating characteristics of FOXG1 syndrome. According to the FOXG1 syndrome patient registry study, more than 61% of FOXG1 patients suffer with seizures.

Our friends at The Epilepsy Foundation have put together this great resource: A Seizure Action Plan.

Why is it important for FOXG1 patients to have a Seizure Action (or Response) Plan?

• You and your family play in central role in your seizure management.

• Your success in managing epilepsy will depend on being prepared to tackle whatever comes your way – from understanding your epilepsy and maintaining seizure control to responding to seizures and managing your safety.

• Seizure Action Plans can help you organize your seizure information and have it available when and where you need it. A prepared plan can help you know what to do to prevent an emergency or tell others what to do in emergency situations. You can also adapt these plans to different situations in your life.

• By helping you be prepared, seizures or the fear of seizures won’t prevent you from participating and enjoying your life to the fullest.

Find Your Local Epilepsy Foundation

How do I make a Seizure Action Plan?

1. Use these forms to help create your seizure plan.

   • Seizure Action Plan (General, English, Fillable)

   • Seizure Action Plan (General, Spanish)

   • Seizure Action Plan (General, Simplified Chinese)

   • Seizure Action Plan (General, Korean)

   • Seizure Action Plan (General, Tagalog)

   • Seizure Action Plan (General, Vietnamese)

   • Seizure Action Plan (General, Ukrainian)

   • My Health Care Team

   • My Medicine Schedule

   • Tips Seizure Observation Recording

   • Instructions Using Seizure Calendar

   • Seizure Calendar

   • My Seizure Event Diary

   • My To Do List

   • Questions For My Health Care Team

   • Explore our Toolbox for other forms - including forms in other languages - that might be helpful to you.

2. Print out the "Seizure Action Plan" and follow along as you work through each section. If you are missing information or don’t know what to do, write it down on your "To Do List" and "Questions For My Health Care Team." Take these forms with you to your next office visit and ask for help.

3. If you are a parent of a child with epilepsy, you can use the "Seizure Action Plan" specific to schools.

   • Seizure Action Plan (School, English, Fillable)

   • Seizure Action Plan (School, Spanish)

   • Questionnaire for Parents of a Student with Seizures (English)

   • Questionnaire for Parents of a Student with Seizures (Spanish)

   • Questionnaire for Parents of a Student with Seizures (Hindi)

   • Questionnaire for Parents of a Student with Seizures (Punjabi)

4. To create an electronic plan, download a seizure diary app to track and manage your seizures.

5. Review your completed plan with your doctor or nurse. Make sure you have the information correct, especially the information on types of seizures and emergencies, doses of medicines, and how to respond to seizures and possible emergencies.

6. After everyone has signed off on the plan, make copies!

   • Keep one with you at all times – in your purse, pocket or wallet, or backpack.

   • Put one in a central place in your home.

   • Give one to people who are with you most frequently (if you feel comfortable with this).

   • If you are a parent of a child with seizures, give one to the school nurse so appropriate people will know what to do if your child has a seizure. Make sure that your child knows you are doing this and is part of the process.

   • If you or your child goes to camp or other programs where she may spend a lot of time, give a copy to the camp nurse, counselor, or person in charge. Again, make sure your child knows you are doing this and is part of the process.

7. Review the plan with your health care team and family on a regular basis – at least once a year or if seizures or your treatment changes.

Contact the Epilepsy Foundation Helpline here

2023 Impact Report

2023 marked six years of the FOXG1 Research Foundation. We are a parent-driven, global foundation with the mission to help improve the lives of every person affected by FOXG1 syndrome worldwide. We are immensely proud of the organization we have built and the resources we have made available to our community since 2017.

We are known in the industry as innovators focused on three equally critical areas: FOXG1 science, FOXG1 patient data, and FOXG1 patients and community. From advancing our gene therapy program, to building our own bioinformatics platform, to helping guide parents through the rare disease medical caregiver journey, this year has been a year of upward progress in all three areas.

Our community is mourning the loss of 8 children in 2023 alone. We must stop this from happening. We are grateful for this incredible team working collectively to advance this goal, and most importantly, to our donors who enable this work.

Here are some of the FOXG1 Research Foundation highlights from 2023:

• Raised >$1.5M ($7.5M to date)

• Concluded our gene therapy preclinical work to upregulate the FOXG1 gene, rescue symptoms, and pass preliminary safety measures 

• Finalized characterization of key FOXG1 animal models, which are critical for drug screening

• Hired Chief Drug Development Officer, Dr. Gai Ayalon from Neumora Therapeutics to lead us successfully to a gene therapy clinical trial with the FDA and other international regulatory agencies

• Named Dr. Soo-Kyung Lee our Chief Scientific Officer, a FOXG1 mother and esteemed neuroscientist  who leads the FOXG1 Research Center of Excellence at the University at Buffalo with a team of >20 members focused solely on FOXG1 syndrome

• Built FOXG1 bioinformatics platform where all raw scientific, genetic and clinical data is normalized and cleansed enabling drug discovery and data for accelerated drug development from novel AI tools 

• Published paper on FOXG1 syndrome from our FOXG1 patient registry; 3 more publications underway

• Submitted paper to Journal of Neurology on epidemiology of FOXG1 syndrome meta-analysis results 

• Joined pharmaceutical-funded Biomarker studies with CombinedBrain

• Implemented FOXG1 Parent Support Team with monthly support zooms and resourceful webinars

• Connect newly diagnosed families to resources, medical professionals, and other families

• Announced the first FOXG1 patient to our advisory board, bringing a FOXG1 patient’s voice to our community

• Remain sought-after thought leaders/ speaker on podcasts and conferences

Here are some of the things the FOXG1 Research Foundation is working on in 2024:

• Moving our gene therapy program from preclinical to clinical stages with a focus on GMP manufacturing of product and toxicology studies 

• The 2024 FOXG1 Science Symposium and Parents Conference in November in Florida, USA

• Continue preclinical projects around small molecule, RNA and antisense oligonucleotide (ASO) drug screenings while continue studying the FOXG1 gene’s impact on the brain 

• Undertaking a large body of pre-work for clinical trials: deciding clinical trial endpoints, publishing a Disease Concept Model, meetings with clinical trial sites, meetings with the FDA and international agencies 

• Collaborations with biopharma companies as potential partners for our drug development programs 

• Exciting new resources for families to help assist managing their medical journeys, which includes new parent support webinars, virtual support meetings, and more

• Publication on FOXG1 Natural History Study data and FOXG1 Epidemiology papers in peer-reviewed medical journals  

• FOXG1 Research Center of Excellence at the University at Buffalo official ribbon cutting

• Growing FOXG1 clinicians network towards Standard of Care Guide for FOXG1 syndrome

• Establishment of expanded biobank with Coriell

• Continuing to expand our toolkit of assets to evaluate current and future therapeutic approaches
  

2023 FOXG1 Research Foundation Media 

*CARETALK Podcast: Why Rare Disease Research is SO Important with FOXG1 Research Foundation CEO, Nasha Fitter: Rare Disease Research and Its Potential To Unlock Medical Mysteries

*Ranked #9 Top Podcast Episode on Apple Health!

San Francisco Business Times: How two mothers are finding hope in searching for their children’s cures

Video Recap: The 2022 FOXG1 Science Symposium and Parents Conference

SFARI News: Dr. Soo-Kyung Lee, FOXG1 Research Foundation Scientist, Earns Grant from Simon Foundation Autism Research Initiative (SFARI) for Genomics of ASD: Pathways to Genetic Therapies 

Cafe Mom: 'Power of Moms': This Mom Quit Her Job To Find a Cure for Her Daughter’s Rare Disease

Press Release: New Children's Book "Joyfully Josie" Aims to Spark Conversations Around Disabilities, Rare Diseases, and Inclusion

Enable Magazine: Disability Pride Month: Educating the next generation to create an inclusive future

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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San Francisco Business Times: Unlikely Drug Hunters: How two mothers are finding hope in searching for their children’s cures

Nasha Fitter didn’t have time. There had to be a better, faster way, she thought — not just for her daughter, who recently turned 7, but for other people with rare diseases.

Fitter tapped her tech and entrepreneurial background to create a nonprofit, the FOXG1 Research Foundation, to try to find a cure for the 100 or so patients known to have the condition at the time. The foundation worked on a natural history study, which in ultra-rare diseases can serve as a placebo arm in a clinical trial. The foundation also creates cell lines, conducts drug screens and oversees gene therapy pilots.

“It’s insane, as parents, that we’re building mouse models and cell lines,” Fitter said. “It’s insane to me that this is what we have to do.”

In a world of little hope — where parents of children with rare genetic diseases are told there currently is little or nothing that will make their kids well and often no existing effort to discover something that will — moms and dads become the most improbable of drug hunters. Within days of a diagnosis, often despite no background in the life sciences, parents latch on to experts and start reading scientific journal articles. They learn about genetics and drug development, and they explore wonky concepts like yeast and animal models and drug-testing assays.

With no guarantees of success, those parents embark on odysseys that have tripped up Ph.D.s and MDs and seasoned drug- development executives.

In essence, they make their own hope.

Chan Zuckerberg Initiative assistance

When added together, rare diseases are anything but rare. In all, 350 million of the 8 billion people globally — more than 4% of the population — have one of the 10,000 known diseases that fit the U.S. definition of “rare,” fewer than 200,000 patients.

Only 5% of those diseases have Food and Drug Administration- approved therapies.

“I always say, ‘Yes, SLC13A5 is rare, but it’s not rare in my house,’” said Kim Nye, whose oldest daughter Tessa and son Colton have mutated copies of the SLC13A5 gene that cause a type of epilepsy. “I hope we can figure out how to make all these things scalable.”

All but a handful of drug companies, such as San Rafael’s BioMarin Pharmaceutical Inc. and Ultragenyx Pharmaceutical Inc. of Novato, have shied away from rare disease drug development. For many companies, the risk, time and money it takes to develop a drug — $1 billion over 10-plus years of work, by industry estimates, to take a single drug from lab bench to patient bedside — is more efficiently spent on a treatment for hundreds of thousands or millions of patients than for a handful.

Parents and other loved ones of rare-disease patients often try to fill the void.

“When a disease is so rare, the chance that any given academic is going to come across enough patients to do a natural history study is virtually zero,” said Tania Simoncelli, the vice president of science in society at the Chan Zuckerberg Initiative. “The only way to study it is to build a patient community. Who’s going to do that? Not some investigator trying to get tenure.

“The patient community has to do that work. They shouldn’t have to, but they have to.”

The mission of the Chan Zuckerberg Initiative — a 7-year-old effort backed by pediatrician Priscilla Chan and her husband Mark Zuckerberg, the co-founder of Facebook and CEO of Meta Platforms Inc. — is to support science and technology to prevent or cure all diseases by the end of the 21st century.

Simoncelli joined CZI five years ago following time in the White House Office of Science and Technology in the Obama Administration, the Food and Drug Administration and the ACLU, where she was an adviser to the organization’s efforts to stop genes from being patented by companies. Her goal at CZI is no less ambitious: help patient organizations build networks that leverage knowledge to make rare-disease therapy development more efficient and effective.

CZI, based in Redwood City, created the “Rare As One” project initially to fund 10 pilot patient groups. Instead, the organization received more than 300 applications, and CZI in 2019 funded 30 three-year, $600,000 grants to help grassroots patient organizations build infrastructure, including paid staff, scientific advisory boards, websites and other community tools.

One of those groups was the Nye family’s TESS Research Foundation in Menlo Park.

The Rare as One network two years ago added a second cohort of 20 organizations.

“Patients have real expertise to bring to the table,” Simoncelli said. “They have the motivation and the insights to generate hypotheses. We see this over and over again, and yet it’s not really recognized.”

There are other, similarly audacious efforts to speed up the search for rare disease therapies.

Ultragenyx bootcamp

As vice president of business development at Ultragenyx in 2017, Dr. Yael Weiss organized a bootcamp at the company’s Novato campus for patients and parents looking to build new therapies. Those sessions, including an upcoming one in April, attract 20-25 participants.

In all, the bootcamp has had 110 attendees representing 85 advocacy groups.

The bootcamp aims to familiarize patients and parents with the drug-development pathway, jargon and options available to them. It also offers an opportunity to hear from experts in the rare- disease space and helps create a “mini peer group,” Weiss said.

“Times are changing and these amazing parents aren’t waiting for industry to pick up their programs,” Weiss said. “They are just doing it.”

Weiss also is founder and CEO of Mahzi Therapeutics Inc., launched two years ago with early funding from Ultragenyx and others, to mentor and support patient groups that fund early research, then in-license programs to continue drug development.

“There is so much activity in this space, and the Bay Area is a hub for some amazing parents and a great rare community, each with heartbreaking and heroic stories,” Weiss said.

Yet parents and patients continue to face sizable roadblocks, including money, time and know-how for navigating the complexities of early-stage drug research and development.

Natural history studies, for example, often rely on far-away academic centers that are challenging to reach when traveling with a young child with a rare disease. On her way to Amara’s third visit to a site three hours away, for example, Fitter’s daughter had a seizure and vomited in the car.

Fitter turned back for home.

“It’s just a ridiculous model. Health care is a very slow-moving industry,” said Fitter, who founded the tech startup Schoolie and was a director at Microsoft Corp. “There’s so much regulation. It’s always slow to change. There’s a lot of nervousness.”

Fitter landed a $482,000, four-year grant from CZI and worked with Ciitizen Corp., a Palo Alto digital health records startup that had focused on cancer. They created a natural history study that included Nye’s TESS Research Foundation and four other groups, using machine learning to scrape records and give uniformity for a picture of those neurological conditions.

“Gathering records is a big hurdle,” Nye said. “Not all hospitals were even using electronic medical records. I had a binder of printouts.”

Fitter joined Ciitizen in October 2018 as vice president or rare and neurological conditions. The company was bought last year by San Francisco-based genetic testing company Invitae Corp.

Patients, researchers and nonprofits can receive its data for free; drug companies pay for access.

“Using technology to gather information in homes, that is my passion. How can we eliminate these unnecessary complications that we are creating for these patients?” Fitter said. “Rare diseases are where we can experiment with new technology.”

‘This is what I am now’

Rare disease research and development is not a career Kim Nye saw herself in when she and her husband were in graduate school near London and Tessa was born with what would turn out to be SLC13A5 epilepsy. Nye, studying law, literature and history in Greek and Latin, was 23 years old.

Now she is a parent of two children with a rare disease — Tessa now is 19 and Colton is 9 — along with being a patient advocate and an expert in all things SLC13A5.The TESS Research Foundation, founded in 2015, supports research and helped take a potential gene replacement therapy to the cusp of a first-in-human clinical trial.

“This is what I am now,” Nye said. “I don’t have the degrees behind it and I don’t have the same type of education, but I have learned from mentors who I think are the best of the best. It’s really been a graduate-school education of sorts, just nontraditional.

“I know who I am, and it’s a role that’s needed. It’s just not a role that has a name.”

Ron Leuty

Nasha Fitter and Kim Nye started rare disease foundations to cure their children’s diseases: SF Business Times

Senior Reporter - San Francisco Business Times

https://www.bizjournals.com/sanfrancisco/news/2023/03/03/rare-disease-cures.html?s=print 4/7

3/3/23, 8:41 PM

FOXG1 Research Foundation, TESS Research Foundation seek rare disease cures - San Francisco Business Times

ONCE UPON A GENE - EPISODE 163 - How Far We've Come - with Nicole Johnson

FOXG1 Research Foundation Co-Founder and rare mom, Nicole Johnson, shares takeaways from the November FOXG1 Syndrome Science Symposium & Parents Conference

EPISODE HIGHLIGHTS

Can you tell us about your daughter Josie and about starting the FOXG1 Foundation?

Josie is 11 years old and she is the cutest little girl. She's amazing in that she has FOXG1 syndrome and can't do much, and yet she's the happiest, most joyful little girl and I feel blessed to have her in my world. My mission is to give Josie and every child with FOXG1 syndrome the healthy life they deserve. On the diagnostic journey, I was blogging and that's how I met Nasha Fitter after her daughter was diagnosed. We teamed up with other FOXG1 parents across the world and formed the FOXG1 Research Foundation in 2017. 

What were your top highlights and takeaways from the FOXG1 Syndrome Science Symposium & Parents Conference?

We hosted two conferences in one and the first was a science symposium where scientists from all over the world met privately in Florida to present their data. I couldn't believe how much science was underway. Seeing how far we've come on the science-front was really incredible, as was the promising data that was uncovered. It was clear that this isn't a job for the scientists involved-- they are invested in helping all children with FOXG1 to live a life without suffering. The parent's conference was a blend of clinicians, scientists and FOXG1 parents that all came together to learn from each other-- to connect, learn and inspire. There was a lot of information and a lot of inspiration.

What advice do you have for patient advocacy leaders in motivating their caregiver and patient population to better understand their disease, get involved and participate in fundraising?

There's a lot we want to say to parents to communicate the work that's being done to improve their children's lives, but it's a challenge because people see things quickly and go on about their day. My best advice is to let the work speak for you. For anyone starting or running a patient organization, it is hard to reach your whole community and convince your whole community to get involved, but the more work you do, the more parents will see the work that's being done. 

What advice do you have for advocacy leaders who want to hold a conference?

If you're thinking about doing it, absolutely do it. We were able to get sponsors which allowed us to do a travel scholarship and that helped parents to come, removing the burden of cost. When we were deciding on a venue, we looked at where the majority of the families lived and chose a place that doubled as a vacation. I recommend choosing a vacation-type location that adds an extra level of enjoyment. 

LINKS & RESOURCES MENTIONED

FOXG1 Foundation

ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group with Nasha Fitter and Mike Graglia

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

Ciitizen

Josie's Journey Blog

Pam Skillman

Nikki McIntosh

Dr. Allyson Berent

Race to 100K

FOXG1 Research Foundation YouTube

TUNE INTO THE ONCE UPON A GENE PODCAST

Spotify

Apple Podcasts

Stitcher

Overcast

CONNECT WITH EFFIE PARKS

Website

Twitter

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Built Ford Tough Facebook Group

The most personalized medicine: Studying your own child’s rare condition

The day Michael Boland’s son was born in July 2018 was blissfully normal. It had been a routine birth, and little Lukas aced the Apgar, a standard health test given to newborns. The next day, Boland made a quick trip home. As he walked back into the hospital room, he saw Lukas move in a sudden, odd way.

“What was that?” he said to his partner, Maja Horn.

“We saw him do that earlier,” Horn said.

A first-time mother, she wondered if the brief, jerky movements were typical of newborns. Or maybe it was hiccups?

Boland suspected otherwise. A cell biologist at the Institute for Genomic Medicine at Columbia University, he studies developmental and epileptic encephalopathies. He knew what seizures looked like in infants. When Lukas moved the same way again an hour later, Boland alerted the doctors. They whisked Lukas to the neonatal intensive care unit and put him on antiseizure medication. Two and a half weeks later, genetic testing revealed a mutation in a gene called STXBP1.

“Oh my God, I was devastated,” Boland says. “I had an idea what we were facing.”

Finding focus: Using stem-cell-derived models, Michael Boland’s team is testing two gene therapies for STXBP1 syndrome. Photograph by Akasha Rabut

He had not studied STXBP1, or syntaxin binding protein 1, but he knew that it plays a critical role in the transmission of electrical signals between neurons. Researchers had identified mutations in STXBP1 that reduce that signaling as a cause of infantile epileptic encephalopathy in 2008. Since then, increases in genetic testing have revealed STXBP1 encephalopathy in about one in 33,000 children. Clinical symptoms vary, but include epilepsy and, often, severe cognitive impairment; about 20 percent of children with the condition exhibit autism traits. Of the most affected children, Boland says, “they’re not going to be potty trained ever, they’re not going to learn to dress themselves.”

A couple of months after Lukas’s birth, Boland sat down with his colleagues at the Institute, David Goldstein and Wayne Frankel, and told them what was going on with Lukas.

“Wayne was like, ‘You’ve got to be kidding me!’” Boland remembers. “David’s jaw hit the table.”

“When do we start working on STXBP1?” Boland asked them.

“Immediately,” they responded.

With that, Boland became one of a handful of scientists in an unenviable but potentially important position: He would turn his heartbreak into hard data and study his own child’s condition. “I’m a scientist. . . This is my son. We have all of the tools here to do this,” he says. “It just feels like that’s what I was trained to do.”

In the world of rare autism-linked genetic syndromes, parents are already playing a central role, pushing to raise funds and advance investigations into their children’s conditions. “Parents are essentially kick-starting, and frankly, de-risking the research,” says Charlene Son Rigby, who in 2017 cofounded the STXBP1 Foundation, which has three parents on its science advisory board, including Boland.

Attracting parents who are also scientists to the cause only turbocharges those efforts. Nasha Fitter, a cofounder of the FOXG1 Research Foundation, a parent-led foundation for research on an autism-linked condition called FOXG1syndrome, could hardly believe it when she stumbled on a 2017 Facebook post by FOXG1 parent Soo-Kyung Lee about a grant she and her husband, Jae Lee, both respected neuroscientists, had secured. “Hold up, you guys are parents and you’re scientists?” she remembers thinking, even before she knew of their expertise and reputation for rigor. The Lees now lead the FOXG1 Center of Excellence at the University at Buffalo in New York State and receive considerable funding from the foundation. FOXG1 families are unfortunate in many ways, Fitter says, “but we’re very fortunate with Soo and Jae.”

Floor time: Cell biologist Boland plays on the floor with his son Lukas. Lukas, nearly 4 years old, doesn’t walk and only recently learned to crawl. Photograph by Akasha Rabut

Experts see little risk in the personalized research of people like Boland and the Lees, noting that ethical review boards and the peer review process help protect against conflicts of interest. Meanwhile, the upside of the urgency and commitment parent-scientists bring may be considerable. “Being extra super smart is great,” says William Dobyns, a pediatric neurologist and medical geneticist at the University of Minnesota in Minneapolis who has helped identify many single-gene brain disorders, “but focus and motivation, that’s one of the difference makers. That gets progress.”

STXBP1 and FOXG1 represent two of an ever-growing list of genes implicated in autism-related neurodevelopmental conditions over the past 15 years. Where once children might have been diagnosed with autism, severe intellectual disability, epilepsy or some combination of the three, genetic testing now pinpoints a causative mutation in about 40 percent of cases, according to Dobyns. (For autism without co-occurring conditions requiring high support, that number is far lower, in the low single digits, he says.) The more profound a person’s traits, the more likely it is that an explanation can be found in their DNA. Having a genetic diagnosis fine-tunes the prognosis for a child and reveals whether other family members are at risk. It also allows hope.

“Once we recognize a specific genetically defined disorder, then the possibility of developing targeted therapy is here,” Dobyns says.

Soo Lee understood that better than most. When her daughter Yuna was born in 2010, Lee was a rising star in the world of neurodevelopmental biology. Her research focused on the role of transcription factors, which regulate genes, during brain development. The demands of her career were intense — so much so that when her infant daughter showed signs of profound developmental delays, she worried it was somehow her fault for working too much. Yuna missed every milestone, had enormous trouble feeding and sleeping and had seizures beginning soon after birth. Magnetic resonance imaging (MRI) revealed microcephaly, a small brain, but genetic testing did not initially turn up any mutations. Yuna was diagnosed with congenital Rett syndrome, a catchall for children who have clinical similarities to the autism-linked condition.

The Lees pressed to keep searching for a genetic culprit. Soo Lee took to carrying Yuna’s MRI results wherever she went, including a multiday meeting for the National Institutes of Health held in San Francisco, California. There, she talked about her then 2-year-old daughter’s condition with a researcher who offered to consult a radiologist colleague who had deep experience reading pediatric neurological MRI results. A few days later, that radiologist reported that the abnormalities in Yuna’s brain structure might be tied to FOXG1, a gene so critical to brain development that mice lacking both copies do not develop a functional brain and die shortly after birth. (The same is true of STXBP1.)

The idea that her own daughter might have a condition related to a neurodevelopmental gene, encoding a transcription factor no less — the very thing Lee studied — seemed almost too coincidental to be believed. Although FOXG1 was well known, the syndrome related to FOXG1 mutations had only been named in 2011 and wasn’t yet widely recognized. When the Lees had Yuna tested for it specifically, the radiologist was proved right. Soo Lee reviewed the raw sequencing data herself to be sure. She estimates that Yuna was the 20th child in the world to be identified with FOXG1 syndrome. There are still fewer than 1,000 known cases, although there are likely to be many more who have not been identified.

The hallmarks of the syndrome include microcephaly, cortical atrophy and weak or missing connections between brain hemispheres, as well as seizures, cognitive disabilities, absence of language, movement disorders and, sometimes, autism. Children who have a completely inactivated copy of the gene, like Yuna, have more disabling traits than those with a more mildly affected version that produces faulty FOXG1 protein.

Yuna’s diagnosis prompted Soo Lee to make FOXG1 a centerpiece of her research. “I thought, this is what I have to do,” she says. Jae Lee, who had done important work on gene regulation of metabolism, joined her. “I was more than glad to drop everything else,” he says.

Expressing interest: Biologist Soo-Kyung Lee with her daughter Yuna and her son Joon. Yuna cannot walk or speak, but she likes stuffed animals and toys that light up or play music. Photograph by Eric Tronolone

Much of the Lees’ home on a quiet cul-de-sac near the university is organized with Yuna in mind. The house features wide-open spaces and hardwood floors that can be readily navigated with a wheelchair. Construction on a small indoor swimming pool is underway, because Yuna enjoyed the hotel swimming pools they frequented when they drove across the country from Oregon to Buffalo to start their center in 2019.

Small and thin for a 12-year-old, Yuna usually wears soft clothing such as sweatpants and a fleece top, with her hair pulled into a ponytail atop her head with a fuzzy scrunchie. (Her dad has gotten very good at doing her hair in the morning.) She cannot walk or speak, but her family know what she likes — including stuffed animals and toys that light up or play music. After she gets home from her specialized school, she spends a lot of time in a play area they’ve created for her in an alcove off the kitchen. Her poor motor control means that she is constantly moving, but when her caregiver puts a sticker on the couch and encourages Yuna to go get it, the girl rocks and reaches her way to the couch. The Lees credit years of therapy and hard work. Her movement has become “more purposeful because she has better control,” Jae Lee says.

They take heart from other small, hard-won changes. Yuna never used to make eye contact with her parents. Recently she began glancing out the school bus window at them as they waved goodbye in the morning. One day when Jae did not join Soo in the driveway, Yuna looked far longer than normal. Soo says she believes Yuna was searching for her father. The next day Jae was back in position and Yuna, presumably satisfied, resumed her usual glance. “She’s doing much better than what I thought [was possible] 5 years ago,” Soo Lee says. “It’s a very subtle thing. Nowadays, I can tell what she likes, that she’s happy. It’s just so much easier to know who Yuna is.”

Play time: Lee helps Yuna peel stickers. Photograph by Eric Tronolone

The research that Boland and the Lees have conducted so far differs in the specifics but offers a basic science primer on how to tackle monogenetic conditions. First, establish viable models, beginning with mice, and use those models to investigate what exactly the genes of interest do in the brain. Because these conditions are developmental, address the pivotal question of whether the work of the gene is complete at birth or whether it continues and offers an opportunity to intervene. Finally, ask the ultimate question: Is it possible to reverse the damage and rescue what has been lost—in humans, not just in mice?

The Lees have focused their efforts on mouse models. The first one they analyzed lacked one copy of the FOXG1 gene and showed altered brain structure and behavior that mimicked the movement, learning and memory deficits seen in children with FOXG1 syndrome. The Lees have since made multiple mouse models that mimic various mutations found in people. And they have shown that FOXG1 helps establish the brain’s cortical layers and create the corpus callosum, which connects the left and right brain hemispheres.

Boland, too, is working with a mouse model of STXBP1, with help from Frankel, who has decades of experience in the field. But Boland also grows human pluripotent stem cells, which he coaxes into two different models: two-dimensional neuronal networks that look like lacy latticework, and three-dimensional brain organoids, which look like chickpeas yet faithfully recapitulate the early cell growth in developing brains. He has even created models using Lukas’s cells and his own. “[That’s] a 3D model of my son’s brain in a dish,” he says during a tour of the lab. The three models — neuronal networks, organoids and mice — trade biological complexity for granularity and together, Boland says, allow more nuanced comparisons of how typical and STXBP1 neurons communicate.

Personalized medicine: Boland grows 3D organoid models of his son’s brain in a culture dish. Photograph by Akasha Rabut

Fortunately, FOXG1’s work appears to be incomplete at birth, the Lees have found, and STXBP1 is critical to how neurons communicate throughout life. That leaves open the possibility of drug treatments or gene therapies. Boland and Frankel are focusing on testing two gene therapies for STXBP1: a traditional replacement therapy that adds back a functional copy of STXBP1 and an adaptation of CRISPR technology that upregulates the gene’s expression. (That work is supported by a grant from The Simons Foundation, Spectrum’s parent organization, and Boland is a part-time consultant for the Foundation.) Unpublished work in other labs has successfully stopped seizures and rescued learning and memory deficits in mice, Boland says.

The Lees are using their mice as platforms for drug screening. One therapy they tried in an unpublished experiment reversed some of the traits in FOXG1 model mice. “We wanted to confirm whether FOXG1 syndrome can be fixed,” Jae says. “The answer seems to be yes. We were just completely stunned.”

Despite the promise, treatment is not imminent for either of these conditions. At home, these scientists focus on being parents, not researchers. Half of Boland and Horn’s Manhattan living room is given over to a colorful rug with toys stacked around its edges. At first glance Lukas, at nearly 4 years old, looks like any child his age, with a cherubic round face. He sits tall on the rug (therapists compliment his posture) and gazes at his parents. But it’s soon evident that his behavior is more like that of a 1-year-old. His feeding issues mean everything he eats must be pureed. He doesn’t talk. He only recently learned to crawl. He might be able to walk by age 6 or so, though it won’t be coordinated walking, Boland says.

Each new skill — head control, sitting up, pulling up, crawling — was the work of many months or even years. Boland and Horn call them “inchstones” not milestones. Nonetheless, they say, Lukas is easygoing and engaged. He loves spinning tops, musical toys and board books. Lying on the floor with an Elmo book, he dips his head to the page and touches it with his lips, giving Elmo a kiss. Such social behavior feels like a gift, Boland says, while mashing up sweet potatoes, spinach and quinoa for Lukas’s dinner. “When he can give you those big beautiful brown eyes that stare into your soul, it makes it easier.”

Small steps: Lukas doesn’t speak but is learning to express his needs through a communication device. Photograph by Akasha Rabut

During her pregnancy, Horn, who was over 40 and at increased risk for having a child with a disability, worried a little bit about that possibility. “Will you do everything you can?” she asked Boland. He said he would. But that was a hypothetical conversation, and the reality of Lukas’s condition was a shock. Over time, however, says Horn, a professor of Spanish literature at Barnard College in New York City, she has come to fully accept Lukas for who he is, and the experience of raising him has changed her “in every imaginable way.” She, too, has shifted her academic interests to think about perceptions of ability and disability. She is glad Boland is studying STXBP1 — that he is, in fact, doing everything he can. But she is not willing to try anything too risky on her child. Her focus is on cherishing Lukas as he is, “a child that’s so lovely and happy,” and facing the immediate future. “My hope is that he will be able to express his needs and wants on his [communication] device. . .to be able to say I’m hungry, I’m thirsty,” she says. “I think that’s totally within reach.”

Boland and the Lees have been changed as well, for better and for worse.

One Sunday afternoon, when Yuna was 5 years old, Soo Lee collapsed in the living room. She had developed vestibular neuritis, a destabilizing condition caused by inflammation, which Soo attributes to stress. Seven years later, she manages her condition with medication but must limit work hours, screen time and some daily activities like driving. When her 9-year-old son, Joon, “wants to show me a YouTube video, he says, ‘Wait, wait, let me lower the brightness,’” she says with a laugh.

Science is famously competitive and ego-driven; there is only so much money and recognition to go around. For Boland and the Lees, however, ego has less to do with it these days. Regardless of funding or support, Jae Lee says, “this is what we would be doing.” Interactions with other scientists are different, too. It used to be “like holding a poker hand,” Boland says. No more. “As a parent, I’m less of the poker player. I’m more like, these are my cards. If you can learn from me, then maybe that’ll help you develop a therapy faster than mine.”

BY LYDIA DENWORTH

Global Genes Rare Leader: FOXG1 Research Foundation Co-Founder & Executive Director

The Basics
Name: Nicole Johnson

Title: Co-founder and Executive Director

Organization: FOXG1 Research Foundation

Social Media Links:

Disease focus: FOXG1 syndrome is a rare, pediatric, neurological disorder that greatly impacts brain development and causes severe physical and cognitive disabilities. FOXG1 syndrome is caused by a mutation to the FOXG1 gene, which is one of the first and most critical genes in brain development. There are currently about 900 known individuals with FOXG1 syndrome worldwide, with the diagnosis rate climbing steadily year-over-year. FOXG1 syndrome is typically a de novo (spontaneous, non-inherited) mutation, with multiple variants that affect individuals differently along the spectrum of severity. Most children born with FOXG1 syndrome are nonverbal, have severe cognitive and physical disabilities, experience intractable seizures, respiratory distress, cortical vision impairment, feeding difficulties, reflux, movement disorders, and more. Less-severely-affected FOXG1 patients present with autism spectrum disorder.

Headquarters: Sands Point, New York

How did you become involved in rare disease: Becoming involved in rare disease, science, and even medicine is the last thing in the world I would ever have expected or chosen as a career path. But, when my daughter Josie was diagnosed in 2014 at 2 years old with FOXG1 syndrome, it became the only area I was interested in dedicating my time to. There was just very little known about FOXG1 syndrome. At the time, there was not a concerted research effort underway for FOXG1 syndrome. It was lumped under Rett syndrome. On her genetics report it said congenital variant of Rett syndrome, but it’s not Rett syndrome. It’s a completely different gene with a variety of variants that all present somewhat differently. At that time, I knew that a real effort centered on FOXG1 syndrome had to begin and that I was at ground zero for what would grow into a much larger organization.

Previous career: Television producer for CNN, NBC, and worked in corporate communications. Founding partner for Qello Concerts streaming service, now called Qello Stingray.

Education: B.S. from Towson University in Maryland

The Organization
FOXG1 Organization’s mission: We are the parent-led, global, rare disease patient organization driving the research to find successful, precise therapeutics and ultimately a cure for every individual in the world with FOXG1 syndrome while deeply focusing on patient advocacy and support. It’s our mission to accelerate research to find successful therapeutics for FOXG1 syndrome and related neurological disorders.

Organization’s strategy: We’re centered in three main areas that are integral to driving drug development. We have a three-pronged approach. One is research. The second is data. Third is the patient community. We’re building a consortium of brilliant scientists to work together to deeply characterize the disease, answer the critical scientific unknowns, and test potential treatments ranging from cutting-edge gene therapy to nascent technologies. We have a ‘leave-no-stone unturned’ mentality. At the same time, our strategy is centered on covering all variants of the disease with a suite of assets that represent all the mutation categories, and then matching them to the coordinating patient data. That’s particular to how we go about things. Having mouse models, cell models for the missense mutation, the nonsense mutation, the deletion, and to be able to layer that over the data from the patients of those exact mutation types, is helping us to provide rich data on our patients and the disease.

Funding strategy: Since we launched in 2017, it’s been a grassroot roots effort with family and friends pulling everyone together. We do as much fundraising as we can, applying for grants, putting together our grants team, building strong teams within our organization. We have a fundraising committee now and we’re looking at all the different opportunities. Fundraising is one of the hardest things about this. We need millions of dollars, and we need people to care about a rare disease. Our fundraising strategy is to do everything we possibly can to raise money and we’re always trying to think outside the box for different ways to do it.

What’s changing at your organization in the next year: We’re just growing so fast. We’re building our team to meet our needs. I’m basically working 60 hours a week right now with a to-do list that would double those hours. We’re hosting the first-ever FOXG1 parents conference in November. We’ve had two science symposiums in the past, but this is the first time that we’re bringing FOXG1 parents from all over the world together. We’re hosting it on the beach in Florida so that we can provide parents and caregivers with a retreat-like experience and an opportunity to relax while we all connect and learn. Our worldwide foundation chapters are growing. We have a FOXG1 Research Foundation in Australia. We have an affiliate association in Spain and in France, and we have more in the works. We’re also about to announce the very first clinical trial for FOXG1 syndrome. This is for an epilepsy medication that is showing very good results for other epilepsy rare diseases.

Management Style
Management philosophy: I’m a producer at heart, coming from CNN, I can see everything that has to come together and all the elements to make it a success. I have somewhat of a positive, perhaps even spiritual, management philosophy. We don’t get the minutes of our lives back. And for our children, we don’t have time to waste. No matter what we’re doing, no matter who we’re working with, it’s imperative that we work smart, efficiently, innovatively, and carefully. But, most importantly, you need to feel good while you’re doing it. At the end of the day, for me, the most important thing for everyone is that the work we do feels good. Our lives are very hard as FOXG1 parents. Growing a global organization from the ground up, building it like a startup, working with industry, academia, parents, and more, with the goal to cure a rare disease in our children’s lifetime, is a stressful role to take on. Protecting our good energy is so important and you must identify what is draining that good energy and know when to call it. You must remove what’s draining you. And once you do, you open the door for much more productive and uplifting things. My management philosophy is not to be too rigid and allow for free-flowing communication because that is where the best ideas come. Stay organized and constantly maintain all the verticals but be nimble to change where change is needed.

Guiding principles for running an effective organization: We’re guided by these shared principles: Never feel locked into one way of doing things. Never think you know it all. Always challenge yourself/us to do better.

Our guiding principles are these questions: How can we do this better? What can we learn to improve ourselves? How is our current process working? What are the gaps that are slowing us down? How can we identify and solve them? What do we need to? What do we need to perform better?

Back to my spiritual style, I personally ask, are we leading with gratitude? I come back to this question often in my life and it always delivers. Breathe through the stress and come back to gratitude, and then and only then can you focus. And never lead with ego. I think this is common in our space, in business, and in life. I’ve seen how it’s the most counterproductive aspect in business. The goal is always, what can we do to help FOXG1 children live the healthy and able lives they deserve.

That means working as a team and seeing the big, holistic picture. And one more is just to value everyone and don’t forget your purpose. Every person, every touchpoint of this organization, is integral to our success. If you’re putting in one hour a month, or 60 hours a week, your time is valuable and appreciated. I want everyone to know this. I want everyone to smile knowing we’re here to change the landscape and to improve human life. We have a tremendous purpose, and it should always feel good.

Best way to keep your organization relevant: Be innovative. Be creative. Always reach out to people. Always make that connection. Always think, what can I be doing to keep my organization relevant. But you must be present. You must be out there. You found me to write this article. You found us. When you’re thinking innovation and you’re connecting with the greater rare disease space, and you’re seeing 10 steps ahead to reach your goal, you will be relevant.

Why people like working with you: I’m a good listener. I have a good way of hearing what people want to do and then turning it into action. I’m compassionate and most of all, it’s clear that I’m passionate about what we’re doing.  

Mentor: Orrin Devinsky, NYU Epilepsy. Bruce Leuchter, CEO of Neurvati, Daniel Fisher CEO of Tevard and Dravet father, John Crowley was an original mentor when Josie was first diagnosed. My cofounder Nasha Fitter is also a mentor, the Angelman FAST Foundation, Terry Jo Bichell from CombinedBrain. Mike Graglia from Syngap Research Fund. Those are just some of my mentors in this space. I’ve had mentors throughout my career in different areas. Myron Kandel from CNN financial news will always hold a special place. There is a new Netflix documentary out now about my writing mentor and friend, Ben Fong Torres.

On the Job
What inspires you: What inspires me most on the job is the FOXG1 children and their parents. Every single one of us is living an extremely difficult life. Every single parent that I come across just has this incredible, unique ability to advocate for their children. It’s the most inspiring love and passion that I get to see every day. The parents inspire me so much, but our FOXG1 children inspire me so much because they’re just amazing. I always say for the things that our children cannot do because of their disabilities, they make up for in this incredible, pure love and joy that comes out in every photo I see. I just want to give them the abilities and the healthy life that they deserve.

What makes you hopeful: The SMA story makes me very hopeful—that there is a gene therapy story out there for a rare disease that is working. While there are few actual approved cures out there right now, I believe we’re living in a time of scientific breakthroughs and that there will be a tipping point when we go from just a few successful gene therapies and just a small number of therapeutics approved for rare diseases to many. I’m keeping this mentality to prepare our organization for that many, for this tipping point, for precision medicine to treat the many symptoms our children experience, as well as to ultimately fix the gene.

Best organization decision: Starting the organization. We got together a team and we never looked back. I will also say having a strategy from the start to focus on every mutation category was one of our strongest decisions early on.

Hardest lesson learned: I went into it thinking that everyone would be very cooperative and learned that people think differently. Not everyone will understand the value of working as a team to help all FOXG1 children. It was hard for me to accept that there were people who have more need for control and they operate from a different place, a place of pride, rather than doing what is productive, helpful, and holistic. I’ve learned to remove any disappointing or counterproductive emotions about this and just put my head down and work as hard and smart as possible to always focus on the goal. I’ll always do what I can to find a cure for every child and adult in the world with FOXG1 syndrome. I know that I’m here for children that I won’t even meet one day, for children who aren’t even born yet. Keeping that in focus removes any disappointments we’ve encountered along the way.

Toughest organization decision: Choosing the research projects to fund is not always an easy decision. We receive proposals from many brilliant scientists at leading academic centers. Oftentimes parents on our team bring forward a scientist whose research proposal is meaningful to them. They’ve been talking for a while. Proposals can seem very promising to us and we get excited about them. But we know we cannot make decisions based on our parent-driven emotions. This is why we have a multi-disciplinary Scientific Advisory Board. They spend time vetting and evaluating research proposals. They find the holes, they ask the tough questions, they give great feedback. We value every single dollar that is donated to help us drive this science. It is our duty to be shrewd with the science we fund.

Biggest missed opportunity: I like to believe that anything that felt like a missed opportunity was just a redirection in the right direction. We recently spent so many hours trying to hire a director of development. We’re ready to bring someone with years of experience to help our non-for-profit development holistically. We must have gone through 60 applications and got down to two candidates. We underestimated the current competitive job market, and both candidates took other positions. Again, is this just a redirection to the right person to help us grow? I’m going to say yes. So, we are continuing to search for a great director of development to join our team.      

Like best about the job: The purpose. I never felt what it meant to have such a purpose in life before. I certainly loved being in the music industry and I loved working in television, but knowing that the work I’m doing here is going to impact human life is unlike anything I’ve ever imagined.

Like least about the job: The purpose. The fact that I’m here because Josie has FOXG1 syndrome is my least favorite thing about the job. I would love nothing more than to have a typical life for her and for my family. I would love for her to be running off the school bus right now, telling me about her day, grabbing food out of the pantry, and running off to her dance class and all these simple things that everyone around me experiences. She had a big seizure yesterday. She’s tube fed. She can’t talk to me. We’re having discussions wondering if she’s having migraines from her new seizure medicine. It’s a heavy life and I’m just so sorry for her that she suffers. And yet, I could start singing “The wheels on the bus” and she’ll smile. She’s so sweet and precious. It’s so hard for her. I would give anything to not be talking to you right now because the term rare disease doesn’t impact me in my life. That’s what I like least about my job.

Pet peeve: Hearing people chew. I was happy to hear this was a genetic condition called misophonia. That makes sense because my sister suffers from it much more than I do. Something happens to us when we hear people chewing. Chewing gum is the worst offender.

First choice for a new career: I’d be a singer in a band, I just have to learn how to sing first. I’d play the guitar too. It may or may not be true that my Josie’s name is inspired from Josie and the Pussycats from Archie comics.

Personal Taste
Most influential book: The Universe Has Your Back by Gabrielle Bernstein. I must have gifted this book to at least 20 people and also Deepak Chopra‘s Seven Spiritual Laws of Success is a guide for me.

Favorite movie: My son will tell you that every movie is my favorite movie. We just watched CODA, and that’s my favorite movie of the week. I have a 15-year-old son, Tanner, and we’re going through the list of all-time best movies, which is fun to do with your kid. Some of my favorites include Forrest Gump, Almost Famous, True Romance, and Dead Poets Society.

Favorite music: My favorite band of all time is Phish, but I love everything from Motown to the Beatles. Bill Withers is a favorite, jazz, Bowie, classic rock, reggae, indie music, old school rap, A Tribe Called Quest—there’s nothing I don’t love.

Favorite food: New York pizza

Guilty pleasure: New York pizza and DIY Instagram videos. When you watch someone just do things themselves, like home renovation, they’re mesmerizing to me.

Favorite way to spend free time: First is just being with my family. I didn’t mind being stuck at home for two years with my people. Second is seeing live music, especially with the friends I love. Third is walking in nature.

Rarebase launches a neuroscience drug discovery platform collaborating with 15 rare disease patient organization

The Function platform, including the FOXG1 Research Foundation, enables drug and target discovery for rare genetic diseases

PALO ALTO, Calif., Sept. 14, 2021 /PRNewswire/ -- Rarebase, a public benefit biotechnology company, launched a tech-enabled drug discovery platform called Function. Function's 15 patient organization collaborators represent genes that cause epilepsy, autism, developmental delay and neurodegeneration. Learn more about the capabilities of Function here.

Mariah Gillaspie, the Founder and CEO of the Lightning and Love Foundation, reads a book to her daughter Emma who is affected by THAP12 epileptic encephalopathy.

Function platform collaborators include: ADNP Kids Research Foundation, SynGAP Research Fund, FOXG1 Research Foundation, STXBP1 Research Foundation, Hereditary Neuropathy Foundation, Hope4Harper, Lightning and Love Foundation, Cure ATRX, Charlotte and Gwenyth Gray Foundation, CureMito Foundation, the SHANK2 Foundation and multiple funds associated with the Rare Village and Rare Crossroads networks. 

"We're thrilled to be actively collaborating with rare disease patient organizations. In our first year, we have built relationships with more than 100 patient organizations who are seeking to find therapies for their loved ones. We see the potential of applying our technology at scale to the discovery of drugs and targets for thousands of diseases that currently have no treatments." said Onno Faber, Co-Founder and CEO of Rarebase.

"Rarebase is pushing the limits of science and innovating a financial structure that allows patient organizations to directly support drug discovery," said Mike Graglia, the Founder and Managing Director of the SynGAP Research Fund. 

"There are many common elements shared between neurological diseases. Instead of each of us working in silos, partnering on specific projects is critical. With Rarebase, we can screen more drugs, we can share costs, and we have more opportunity to learn from one another," said Nasha Fitter, the Co-Founder and CEO of the FOXG1 Research Foundation. 

"There is an urgent, unmet need for effective therapies for STXBP1 and other neurological diseases. We are excited to partner with Rarebase and other patient organizations to accelerate drug discovery across multiple conditions, and to do so through a novel collaborative model," said Charlene Son Rigby, Co-Founder and President of the STXBP1 Foundation.

"Rarebase is stepping outside the traditional drug development pipeline and harnessing new technology and science that patient organizations like ours would never be able to utilize alone," said Sandra Sermone, the Founder and CEO of the ADNP Kids Research Foundation. 

"We want our children to be independent in life and, honestly, just be able to live another day. Function is finally doing justice to how we need to approach finding answers for rare diseases," said Penny Howard, the Founder and CEO of Hope4Harper. 

"A single strand of spider silk can be easily broken. However, add thousands together and they become stronger than steel. The same goes for our rare disease communities; there is undeniable strength in numbers and exponential power in supporting each other towards our common goal," said Allison Moore, the Founder and CEO of the Hereditary Neuropathy Foundation.

Rare diseases represent a major unmet medical need as millions of people globally suffer without treatment options. The number of identified rare diseases is rapidly growing due to advances in genetic testing. Nearly 10,000 rare diseases affect an estimated 400 million people worldwide, but only 5% of them have an FDA approved treatment. 

About Rarebase, PBC
Rarebase is a public benefit biotech led by patients, scientists, advocates and engineers. We leverage innovative technologies to build platforms that help us discover and develop treatments for the millions of people worldwide affected by the long tail of rare genetic disorders. The company is funded by BlueYard Capital.

Media Contact: Lynsey Chediak
[email protected] 

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.

Rare Disease Day 2021 : FOXG1 Syndrome

Rare Disease Day is a day to raise awareness about rare diseases like FOXG1 syndrome and their impact on patients' lives.

The research we fund at FRF not only has the potential to treat and cure FOXG1 syndrome, but provides pathways to cures for the 6,000+ other rare diseases that affect over 300 million people worldwide.

Please help us reach our goal to further cutting-edge research to find therapies for every child in the world with FOXG1 syndrome and to help pave the way for rare diseases at large.

Enjoy some Rare Disease Day 2021 FOXG1 Features

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Please feel free to join us on this incredible mission! [email protected]

Thank you for your support!

Introducing - FOXG1 Research Foundation Australia!

We are thrilled to announce our official affiliate foundation in Australia! The FOXG1 Research Foundation Australia is led by Steve Hille, father to beautiful two year old Mina.

A statement from Steve Hille…

It is my belief that the job of every parent is to make themselves redundant and that their kids can have independence at the appropriate time in their lives. When we learned about our Mina’s diagnosis it was becoming clearer and clearer that this was not going to be our reality. This is a devastating feeling for a parent. 

My life, to this point, has been full of good luck and being in the right place at the right time to align myself with certain situations that have proved to be very beneficial to myself and my family and it’s not lost on me that this is largely due to the incredible luck of being born and raised so well in such an amazing country. We are also very blessed to have such incredible health and social services systems here in Australia.

My priority is now to work with our international teams on the Path to a cure for FOXG1 syndrome and other related diseases. It is truly awesome in every sense of the word the things that I have learned since becoming involved with the FOXG1 Research Foundation. Here is a short list of some of the things that they have accomplished so far:

•  Built a world-renown Science Team that includes a consortium of experts in academia and industry working towards disease-modifying therapies and ultimately a cure.

•  Developed and studying critical assets including animal models and cellular models based on every category of FOXG1 mutations to accelerate the research and trials. See all Research Projects here.

• Built the biobank to help the researchers grow pluripotent stem cells to help speed up the research per mutation.

• Built the FOXG1 Patient Data center that includes the robust patient registry and now the new digital natural history study supported by the Chan Zuckerberg initiative.

• Attracted several biotech companies to invest in FOXG1 syndrome for gene therapy, antisense therapy, and more.   

• Fundraise a significant amount to make all these things happen.

It is my intention that FOXG1 Research Foundation Australia will support in every way possible and work extremely closely with the international teams. Until now in Australia there has only really been one serious researcher into FOXG1 and that work is now finished. While most of the work is happening in the United States and Europe, we will be assisting mainly from a fundraising perspective, but also helping with projects and identifying opportunities in Australia to advance the science and feed that back into the international teams.

We have an unbelievable team and we are all eager and excited to work on the path to a cure for FOXG1 syndrome together.

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Meet the FOXG1 Research Foundation AUSTRALIA team

Steve Hille – (Father to Mina and CEO of FOXG1 Research Foundation Australia). A network communications expert with both academic and industry certifications, along with years of experience. Very motivated to assist the international team with any support that we can provide from Australia. email: [email protected]

Angela Yiallouros – (Director and Secretary) A risk management professional for large corporations, Angela ensures the necessary governance and compliance of our Board. Motivated by her experience with family health issues, Angela is committed to working with the not-for-profit community and fully understands the importance of working towards a cure.

 Caroline Nesbitt – (Director and board adviser) A PhD in organic chemistry and a senior technology consulting professional, Caroline brings a broad medical research understanding combined with deep knowledge of technology (including big data) to help accelerate our search for a cure. Caroline has held senior roles across several global management consulting firms and advises boards internationally.

Liz Jazwinska – (Director and Chairperson) A PhD in medicine and a strong interest and background in genetics, Liz is on a number of boards and has worked across Government, business and academia and brings her incredible experience, knowledge and contacts to the Foundation.