FOXG1 syndrome is a neurological 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.
FOXG1 Protein tells our brain what to do.
When a child’s FOXG1 gene is missing, spelled wrong (altered), or duplicated…
it changes how their FOXG1 protein works, and that impacts brain development.
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.
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.
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
FOXG1 Phenotypes – Human Symptoms
MICROCEPHALY AND STRUCTURAL BRAIN ABNORMALITIES
Small head size with partial or full loss of the corpus callosum (inhibiting communication of left and right brain)
Infantile spasms and life-threatening seizures resistant to drug and surgical treatments
Low muscle tone leads to inability to sit, walk, talk or use hands purposefully
Strabismus, poor eye contact, and cortical visual impairment
Low muscle tone leads to reflux, constipation
Most patients require feeding tube placement
ASSOCIATED CONDITIONS & DISORDERS
Autism Spectrum Disorders (ASD)
Sensory Processing Disorder (SPD)