Advancing Research for FOXG1 Syndrome
Due to COVID-19, we will be postponing the event to September 2021.
But we are still looking for volunteers and donations!
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ABOUT FOXG1
FOXG1 Phenotypes - Human Symptoms
MICROCEPHALY & STRUCTURAL BRAIN ABNORMALITIES
Small head size with partial or full loss of the corpus callosum (inhibiting communication of left and right brain)
EPILEPSY/SEIZURES
Infantile spasms and life-threatening seizures resistant to drug and surgical treatments.
PHYSICAL DISABILITY
Low muscle tone leads to inability to sit, walk, talk or use hands purposefully.
Strabismus, poor eye contact and cortical visual impairment.
FEEDING ISSUES
Low muscle tone leads to reflux and constipation.
Most patients require feeding tube placement.
ASSOCIATED CONDITIONS & DISORDERS
Autism Spectrum Disorders (ASD)
Sensory Processing Disorder (SPD)
Movement disorders
For more information about FOXG1, go to www.foxg1research.org.
FOXG1 Explained
FOXG1 syndrome is a monogenic neurological orphan disorder caused by a mutation in the FOXG1 gene.
FOXG1 was formerly named Brain Factor 1 due to being the first and most fundamental gene formed during human development.
FOXG1 encodes the Forkhead Box G1 protein.
FOXG1 is a transcription factor gene - it transcodes data to tell our brain how to grow cells and contributes to development of the telencephalon, which is an embryonic structure that gives rise to the cerebrum.
Cerebrum is the most important part of the brain - it controls cognition (walking, talking, thinking).
The following pathogenic variants have been observed in FOXG1 syndrome patients; deletions, duplications, missense, truncation and frameshift variants.
Why FOXG1 is an excellent candidate for biotech investment:
FOXG1 syndrome is caused by just one singular gene - FOXG1.
FOXG1 is a small gene made up of a single exon. Therefore, it can be easily packaged into most viral vectors used in gene therapy.
FOXG1 is a straightforward gene. It’s biological mechanisms are less complex than many other genes affecting the brain.
FOXG1 expression is restricted to specific regions in the brain; therefore systemic therapies are not indicated and a tailored strategy can be employed - also making gene therapy more viable.
FOXG1 dysfunction has been linked to various other conditions like autism, Alzheimer’s and schizophrenia, suggesting that therapy development may be transferable to more common disorders.
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These reasons make FOXG1 an easier, less-risky gene for biotechnology companies to test therapies and experiment on. Success can be more easily attained than when working with many other genes. And a fix to FOXG1 could have broad impact on a plethora of other conditions.
FOXG1 is linked to Major Brain disorders
Research shows FOXG1 plays a role in autism, Alzheimer’s, schizophrenia and epilepsy.
This article led by scientist Dr. Flora Vaccarino at Yale University showcases FOXG1 plays a critical role in the development of autism spectrum disorders (ASD).
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ASD affects 1 out of 68 children in the United States alone.
FOXG1 could be a viable drug target for ASD as lowering FOXG1 expression has shown to reverse ASD symptoms.
Patients with greater head size, and more severe ASD symptoms, had greater expression of FOXG1.