Epilepsy and Neurodevelopment Research Priority

The brain is the most complex organ in the body and understanding the fundamental building blocks underlying its function remains one of the greatest challenges in science and medicine. At The Florey our research focuses on how the healthy brain operates and what goes wrong to cause epilepsy, neurodevelopmental disorders and brain cancer.

We address this challenge by using state-of-the-art approaches, including high-resolution imaging, genetic engineering, stem cell technologies, electrophysiology, population-based epidemiology, multiomics and machine learning methods.

Our experimental and clinical researchers are world leaders in uncovering how the healthy brain works and the mechanisms that drive complex neurological disorders. This knowledge is paving the way for new precision medicines, better treatments and surgeries, and prevention strategies that will transform the care of millions of Australians impacted by these diseases.

Our goal is simple but ambitious: to give people with epilepsy, neurodevelopmental disorders and brain cancer healthier and brighter futures.

Focus areas

Delivering precision therapies for genetic epilepsy and neurodevelopmental disorders
MRI for improved surgical targeting in epilepsy
Understanding brain cancer
Revealing the fundamental building blocks of healthy brain function
Creating early preventative approaches to stop neurodevelopmental disorders

Research impact

Ebony inspires world-first research

Ebony Boehm has a severe form of epilepsy and developmental delay caused by a variation in her HCN1 gene. She had her first seizure when she was only 3 months old and experienced up to 20 seizures a day. Ebony went through months of trying different medications to treat her epilepsy. One drug made her seizures significantly worse.

Professor Chris Reid and Dr Lauren Bleakley from The Florey engineered a mouse model, named the ‘Ebony Mouse’, to mimic the young girl’s HCN1 epilepsy. They then tested a range of existing anti-seizure medications, the results of which indicated specific medications were more effective for Ebony’s condition than others.

_{Image: Ebony on her first day at kinder, and with Dr Lauren Bleakley}

Saving children from seizures

Fern Stevens was 7 months old when she experienced her first seizure and was later diagnosed with HCN1 epilepsy. Fern’s seizures became more serious and regular, and were not controlled despite trying multiple medications.

Fern’s parents, Philip and Jules, searched the internet for HCN1 and ended up on a Zoom call with Professor Chris Reid and Dr Lauren Bleakley at The Florey, one of the only places in the world studying HCN1 epilepsy.

“The Florey in that moment changed our lives. In three and a half long years we hadn’t managed a single positive outcome for all our dedication and effort. Chris and Lauren’s research allowed us to stop Fern’s seizures almost instantly, and she has been seizure-free ever since.

Baker-Gordon Syndrome

Baker-Gordon Syndrome is a rare neurodevelopmental disorder discovered by The Florey’s Dr Sarah Gordon and her collaborator Dr Kate Baker. The disorder is caused by variants in a gene called SYTI, leading to impaired communication between brain cells. Children with this gene variant can experience developmental delay, involuntary movement, poor or no speech and behavioural difficulties.

Dr Gordon’s team are working to better understand what causes the disorder and investigating new treatment options that can potentially enhance neural communication between brain cells.

Conditions and diseases we study

Key projects

Understanding how genetic changes cause epilepsy

Many forms of epilepsy are caused by alterations in a patient’s genetic code. Sometimes, a single tiny change in the DNA can result in severe seizure disorder. In other instances, it’s a combination of several changes that can cause epilepsy. There’s still a lot we don’t understand about how these genetic variations lead to the symptoms of the disease.

Our goal is to bridge this knowledge gap by studying the effects of the genetic changes in lab-grown cells and animal models of genetic epilepsy.

Improved surgical planning using neuroimaging

Advanced computational image analyses assist in epilepsy treatment by identifying where seizures occur in the human brain. These cutting-edge technologies are vital in planning surgical interventions. By using high-resolution structural and functional imaging, neurosurgeons can accurately identify and target specific brain regions responsible for seizures. This approach is particularly promising for drug-resistant epilepsy.

Early life environment and neurodevelopment

Plastic product chemicals, such as bisphenols and phthalates are ubiquitous in our environment. Florey researchers are exploring whether prenatal environmental chemical exposures, singly or as mixtures, influence the development of behaviour characteristics in neurodevelopmental conditions such as autism and ADHD. By using advanced multi-omic technologies – including genomics, epigenomics, metabolomics, lipidomics – we can investigate the complex biological pathways involved in early-life neurodevelopment.

In addition to chemical exposures, we are examining the effects of excess inflammation during pregnancy on offspring development. We are also investigating protective factors, including novel lipid-based therapies that may help support optimal neurodevelopment.