About FOXG1

Background

What is FOXG1 syndrome?

FOXG1 syndrome is a rare, debilitating neurological disorder causing severe cognitive impairment. Most patients are unable to walk, talk, or eat unassisted; all are at high risk for dangerous seizures. There are ~800 known diagnoses worldwide. Nearly all patients are young children under age ten.

Why is the FOXG1 gene important? 

The FOXG1 gene plays a critical role in brain development because it regulates several other genes in the brain. When a person does not have the right amount of the protein created by this gene, the entire system is impacted and prevents normal development. Symptoms include: visual impairment; uncontrolled movements; sleep disorder; seizures; extreme, unprovoked irritability; acid reflux; excruciating constipation; and more.

What connections does FOXG1 have to other conditions? 

FOXG1 is among the most critical human genes.  While FOXG1 syndrome is a very rare condition, the FOXG1 gene has been linked to Alzheimer’s, Autism Spectrum Disorder, Schizophrenia, and Epilepsy. Research into FOXG1 can potentially help unlock critical knowledge to inform treatments for more common diseases.

Research

How do we treat FOXG1 syndrome? 

At present, there are no drugs or therapies available, but we are working with leading scientists and collaborators to change this.

What scientific strategies are being pursued? 

Broadly speaking, there are two kinds of approaches to addressing this condition: (1) attack the root cause of the problem (abnormal FOXG1 expression); or (2) find a solution that doesn’t fix the underlying problem but which fixes the result of the problem (abnormal regulation of cells). We are pursuing both. Potential pathways like gene therapy and gene editing may be able to alter the actual genetic mutation that causes the problem, while other treatments will target the downstream effects caused by the mutation.

How do we go about pursuing the science? 

Several related projects are needed to address our goals. First, we are generating animal and cell models to replicate the disease and deepen our understanding of it. Second, we are developing potential therapies. Third, we will test these therapies on the models to learn what may be therapeutic and then seek to translate those learnings into human treatments.

What advantages do we have? 

We’re in the midst of a true scientific revolution in our understanding of the human genome and the potential for “fixing” genetic errors. Drugs using new techniques and new technology are already FDA-approved, and for the first time, humanity has the tools to make unprecedented progress. The FOXG1 gene, while complex in functionality, is actually a single, small gene that is an ideal target for such advances.

Funding

What do we need? 

We need financial support to accelerate our projects, as time is of the essence and big pharma doesn’t prioritize rare diseases. The earlier in a patient’s life we can intervene, the better the outcome will be. But research is expensive and will cost several million dollars on the timetable we need.