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 known in the industry as innovators as we focus 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. Here are the FOXG1 Research Foundation highlights from 2023 and goals for 2024.
FRF Appoints Chief Drug Development Officer, Dr. Gai Ayalon
The FOXG1 Research Foundation announces the appointment of Dr. Gai Ayalon as the Chief Drug Development Officer..
Dr. Ayalon is a distinguished neuroscientist and drug developer, who over many years led teams and spearheaded drug development programs for neurological diseases including rare neurodevelopmental disorders, spanning the discovery, translation and clinical phases. He joins our foundation at a critical and pivotal juncture as we enter Phase Four on our Path to a Cure, taking programs through safety studies and clinical trials.
Dr. Soo-Kyung Lee Named FOXG1 Research Foundation Chief Scientific Officer
The FOXG1 Research Foundation (FRF), announced today the appointment of Dr. Soo-Kyung Lee as the new Chief Scientific Officer of the FOXG1 Research Foundation. Dr. Lee is an Empire Innovation Professor and Om P. Bahl Endowed Professor at University at Buffalo Department of Biological Sciences. Since joining the FRF in 2017, Dr. Lee has elevated the FOXG1 research center at the University at Buffalo to a global leader in the field. Her exceptional work has garnered around $3M annually from federal agencies, FRF, UB, and the Simon Foundation Autism Research Initiative (SFARI), notably receiving SFARI's 2022 Genomics of ASD: Pathways to Genetic Therapies award.
Dr. Lee’s dedication to curing FOXG1 syndrome is deeply personal as a mother to Yuna, diagnosed with FOXG1 syndrome in 2009. Her passion and commitment have inspired everyone fortunate enough to work with her. It's a rare and special circumstance to have FOXG1 parents leading the scientific journey towards effective therapeutics for all FOXG1 children globally.
COMBINEDBrain Biorepository enrolling FOXG1 participants at conferences across the USA
New Children's Book and Digital Platform "Joyfully Josie" Aims to Spark Conversations Around Disabilities, Rare Diseases, and Inclusion
Nicole Zeitzer Johnson announced today the release of her debut book, "Joyfully Josie." Designed to help parents and families discuss inclusion in the context of disabilities, this captivating children's book series aims to foster understanding of rare diseases and the experiences of medically complex individuals.
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.”
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.
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
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
"Inside Research with Nasha" - Repurposed Drug Screening for FOXG1
We’re kicking off a new series called “Inside Research with Nasha.”
Our FOXG1 Research strategy is to leave no stone unturned. We’re looking at every possible angle in science to find disease-modifying therapies and ultimately a cure for FOXG1 syndrome and we want to keep everyone informed along the way. We’re also taking this opportunity to really explain what so many buzz words in science mean and how they fit into the research projects we are funding.
Today, we’re very excited to talk about our small molecule drug screening projects. Nasha explains some of those buzz words that covid made mainstream, like high-throughput screening, repurposing, small molecules, and more.
You can find more information about our Research Projects, our Path to a Cure and our FOXG1 Science Team on our website.
Please follow us on social @FOXG1Research so you don’t miss any of our Inside Research updates!
Taysha Gene Therapies Takes on FOXG1 Syndrome!
AAC for FOXG1 Syndrome
Communication, as well as other struggles stemming from the condition, can feel like a daunting and almost impossible task for families facing FOXG1. Here, the CoughDrop app – along with other communication products – can be found and used as available resources to improve communication.