FOXG1 Awareness Month—and the need for investment in rare diseases like it

November is FOXG1 Awareness Month. We are amplifying some information from the FOXG1 Research Foundation about why this rare disease is prime for investment.

FOXG1 is “a rare neurological genetic disorder that greatly impacts brain development and typically causes epilepsy and a host of physical and cognitive disabilities,” says the FOXG1 Research Foundation. “Most children with FOXG1 syndrome cannot walk or talk or take care of their basic needs.”

FOXG1 is a rare neurodevelopmental disorder caused by a mutation of the FOXG1 gene, which impacts brain development and function. This severe condition is characterized by seizures, inability to control body movements, and lack of speech.

While the spectrum of abilities is quite broad depending on the exact genetic mutation, many of our children cannot walk or talk, and they struggle to communicate their most basic daily needs. It is possible for parents to be carriers, but most cases of FOXG1 are non-inherited and have no family history.

There are currently about 900 known people in the world with FOXG1 syndrome—and while medications and physical and speech therapy can provide stability to patients, there is no cure.

But FOXG1 is prime for investment—not only to find that cure, but also because it “holds the key to unlock brain disorders affecting millions, including autism, Alzheimer’s, brain tumors, and many more,” says the Foundation.

FOXG1 Foundation Founder Nicole Johnson spoke with COMBINED Brain about the foundation’s work and the two-year “diagnosis odyssey” of her ten-year-old daughter Josie.

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