2022 Impact Report

2022 Impact Report

2022 Research Highlights (see details below)

  • Breakthrough gene therapy results showing rescue of FOXG1 brain structure, behavior, memory and cognition symptoms in animal models

  • Positive results on initial compound drug screens to identify molecules to increase FOXG1 levels; now moving forward to larger screens

  • Never-before understanding of FOXG1 biology uncovered from six FOXG1 patient human cell lines and mouse models 

  • Successful testing of guide RNAs to increase FOXG1 expression with a CRISPRa Cas-9 system

  • Discovered ASO sequences (antisense gene therapy) to modulate FOXG1 expression; testing initiated with Creyon Bio  

  • FOXG1 data package presented to several biotech companies with high interest


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

Effie Parks talks to the co-founder of the FOXG1 Research Foundation, Nicole Johnson in this episode of Once Upon a Gene. Nicole shares the FOXG1 Research Foundation journey marking five years, and shares tips on how to throw a successful conference for scientists, clinicians and parents from all over the world

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

Article from Spectrum News, the leading site for autism research news. Excerpt: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.”

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

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Global Genes features FOXG1 Research Foundation Co-founder and Executive Director, Nicole Johnson as a rare Leader. Learn about the FOXG1 organization’s strategy, mission, guiding principles, Nicole’s management philosophy, and more.

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The Johnson Family - Changing the World Right Here in Port Washington

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The Johnson Family - Changing the World Right Here in Port Washington

FOXG1 Research Foundation co-founder and Executive Director shared her story with her hometown local magazine called Port Washington Living. This feature article celebrates the Johnson family and Nicole’s work to find a cure for FOXG1 syndrome, while helping FOXG1 families around the world, including helping the FOXG1 family in the Ukraine to safety.

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Help FOXG1 Ukrainian Family Rebuild!

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Help FOXG1 Ukrainian Family Rebuild!

The FOXG1 Research Community has helped get a FOXG1 family safely out of the warn-torn Ukraine! Now, they have to rebuild thier lives. Eva is a 3-ear-old child with the severe rare disease called FOXG1 syndrome. She suffers from seizures and is disabled. They are on thier way to safely, but they lost everything. This is how you can help. Thank you!

COMBINED Brain Interviews FOXG1 Research Foundation Co-Founder, Nicole Johnson

For FOXG1 Awareness Month, Terry Jo Bichell, the Director of COMBINED Brain spoke to Nicole Johnson about her FOXG1 journey. Nicole discusses her daughter Josie, her family, and how the FOXG1 Research Foundation was created. Learn the FRF's research strategy and more.

One Rare Disease Mom and Patient Organization Leader to Another…

Terry Jo Bichelle is the founder of COMBINED Brain, The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders that is devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders by pooling efforts, studies and data. Nicole Johnson is on the board of COMBINED Brian and is the co-founder and Executive Director of the FOXG1 Research Foundation.

Terry Jo speaks to Nicole about her journey as a FOXG1 mom, from the early days of searching for her daughter Josie’s diagnosis to starting the FOXG1 Research Foundation. As Terry Jo says the FOXG1 Research Foundation has “really power packed” the work in four years to drive the science towards therapeutics for all individuals with FOXG1 syndrome.

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

Rarebase launches a neuroscience drug discovery platform collaborating with 15 rare disease patient organizations including the FOGX1 Research Foundation, SynGAP Research Fund, , STXBP1 Research Foundation, Hereditary Neuropathy Foundation, and more. The Function platform enables drug and target discovery for rare genetic diseases.

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

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Effie Parks celebrated podcast Once Upon a Gene Episode 094: FOXG1 advocate Nasha Fitter and SYNGAP1 advocate Mike Graglia are leaders in the rare disease community and two of the top parent leaders in the advocacy game. In this episode, they're sharing their knowledge, expertise and experiences in an information-packed masterclass on how to build a rare disease patient advocacy group, get funding and forge a path to a cure.

Boston Children's Heather Olson on the Importance of the FOXG1 Digital Natural History Study

Heather Olson, MD, MS, Neurologist at Boston Children’s and Neurology Instructor at Harvard Medical, discusses FOXG1 Research Foundation’s Ciitizen Digital Natural History Study.

Heather Olson, MD, MS, Neurologist at Boston Children’s and Neurology Instructor at Harvard Medical, discusses FOXG1 Research Foundation’s Natural History Study.

FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. The condition can be caused by mutations within the FOXG1 gene or a deletion of genetic material from the region of the long arm of chromosome 14 where the gene is located. FOXG1 syndrome is considered an autosomal dominant condition. While it is possible for parents to be carriers, most cases result from new mutations.

As Dr. Olson explains, natural history studies like the one supported by Ciitizen and the FOXG1 Research Foundation are critically important, especially for rare diseases. These studies allow researchers to learn about different symptoms, how heterogeneous the patient population is, and to avoid bias when conducting studies. Dr. Olson also explains that this particular natural history study is unique in that it is digital which is beneficial as it puts less strain on families and patients participating in the study.

To learn more about FOXG1 syndrome and rare neurological disorders, visit checkrare.com/diseases/neurology