NEWS
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!
The FOXG1 Research Foundation is dedicated to driving science towards therapeutics and ultimately a cure for every person in the world affected with FOXG1 syndrome. While accelerating research, we are also focused on advocating for and supporting families along this difficult journey. We cannot do this without you. In 2021 we raised nearly $3M. Thank you for your support!
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.
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 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.
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.
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.
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
