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Discovering the cause of a severe disorder

Recently our director, Professor Steven Petrou, caught up with one of our senior researchers, Dr Sarah Gordon, and she related an amazing story.

Dr Sarah Gordon is among a number of researchers at the Florey pursuing solutions to illnesses of the brain that affect children.

Last year Sarah discovered the cause of a severe neurodevelopmental disorder, along with a collaborator. In doing so, she earned the rare distinction for a scientist of having the disease named after her.

Children with Baker-Gordon syndrome typically can’t walk and don’t use speech to communicate. Some of them can’t recognise their own parents.  

Sarah has worked passionately on revealing the secrets of the mutation behind this devastating disease for some years.  

“My job was to work out how that mutation leads to the dysfunction in brain communication between neurons,” 

Sarah and her collaborator British clinician Kate Gordon revealed that the mutation slowed down the ability of these neurons to communicate with each other.

Excitingly, the researchers found they could ‘speed up’ this communication. They are now working on a treatment that changes the activity of brain cells.

The research has had its rewards for Sarah but none as heartening as meeting a Melbourne family with a daughter who has Baker-Gordon syndrome. 

The experience was profound.

“This family appreciated so much that there was someone out there that is actually trying to do something for them.”

Sarah says it’s important to study rare diseases not only to help the patients involved but also because the knowledge gained will have impact beyond.

We’re making inroads into understanding and treating childhood epilepsy.

We’re searching for treatments for inherited blindness, aiming to save the sight of affected children and, using up-to-the-minute stem cell research, are helping to develop ways of repairing the hearts of kids with congenital heart disease.

Sarah says philanthropic support has been vital to this work.

We hope you will continue to support Sarah’s quest to find answers to this heart-breaking disease and to others like it. And that it might one day lead to that other rare achievement for a scientist in their lifetime – finding a cure, if not an effective treatment for the disease.  

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