FOXG1 syndrome is a newly recognised and rare genetic disorder that is caused by a mutation in FOXG1 on Chr14. Only about 600 people worldwide are diagnosed with the syndrome, but it has a profound impact on development that has been described by one parent as “everything that can go wrong has gone wrong”.

On 20th February, The Naked Scientists released a podcast - FOXG1 syndrome: fighting the odds – discussing the little-known syndrome with parents of affected children and scientists. Hannah Bruce, MRC-Sackler PhD Fellow, whose research takes a cellular and molecular approach to understanding the syndrome, was interviewed for the podcast.

The FOXG1 protein (formerly known as Brain Factor 1) is a transcription factor, controlling the expression of other genes. Those affected by the syndrome have just one functioning copy, compared with the normal two. Hannah, from the Houart & Srivastava labs, uses zebrafish as a model system and has found that zebrafish with no functioning Foxg1 die 7-10 days after birth, and have microcephaly but no inhibitory neurons in the telencephalon. Foxg1 is thought to set up the developmental boundaries where excitatory and inhibitory neurons are produced and thought to coordinate the boundary for the production of excitatory neurons.

The next step in Hannah’s work is to develop and characterise a heterozygous Foxg1 zebrafish line, with one functioning copy of the gene. Zebrafish are an excellent model system for work such as Hannah’s and offer many opportunities such as a rapid and high-throughput screen of drugs that target the excitatory-inhibitory balance.

For more information about FOXG1 syndrome, visit the International FOXG1 Foundation’s website.