Delving into the Neuroscience of the Brain and Mind

CaSe STudy

The SUDEP project aims to develop therapies and precision medicines that address underlying problems, not just the symptoms.

Generally, people with epilepsy are at a 1 in 1000 risk of SUDEP per year, with the causes still unclear, making it difficult to identify people at risk so preventative measures can be taken.

A mission supported by HM1 funding

SUDEP is ‘sudden unexpected death in epilepsy’, with no reason for the death being found.

The SUDEP project aims to develop therapies and precision medicines that address underlying problems, not just the symptoms. This may include tailor-made treatments for individual patients.  

Florey researcher, Professor Chris Reid has worked with patients with severe uncontrolled epilepsy due to rare genetic mutations, such as HCN1. As the Epilepsy Mission Lead, Professor Reid has developed a solid team including two postdocs, three PhD students, a research assistant and two part-time senior researchers to help develop new models for treatment. In order to test and improve these models, as well as teach, train and share knowledge, the team engage with several internal, national and international collaborations including University of Melbourne, University of Sydney, Murdoch Children’s Research Institute, Centenary Institute and University of Southern Denmark.

Professor Reid has established five new genetic epilepsy models to test his hypotheses and has developed a model aimed at interrogating SUDEP mechanisms. A recently discovered gene, KCNH2, could be implicated in the incidence of SUDEP. This exciting discovery may lead to a possible predictive biomarker for SUDEP. Professor Reid’s research has also found a small molecule that is looking promising for developing therapeutics.

The team is continuing their investigations by analysing how the brain and heart are functioning at the time that SUDEP occurs using electrocardiogram-electroencephalogram (ECG-EEG) mouse models. They hope these models can also be used to trial treatments that may reduce SUDEP risk.

Research for change

This project is finding novel ways to reduce people’s suffering, help identify the causes, improve treatments and discover solutions to prevent these diseases occurring in the future. For many of these diseases there is no effective treatment and no cure, and although there are few people affected, the impact of a rare disease on a person’s life, and on their family can be devastating.

Outcomes for this project have the potential to not only help the 50 patients we know have the condition globally, but it will help the hundreds that will be born with this mutation in the future. More importantly, research advances in rare diseases, such as genetic epilepsies, can inform research for more common diseases and genetics in general.

Professor Reid is using precision medicines and models to help facilitate informed decisions in this project, which is becoming increasingly utilised in medicine more broadly. The findings from these models might assist in identifying the medications that affected individuals should avoid, in order to prevent their condition from becoming worse. Additionally, the findings could play a role in the development of therapies tailored to specific conditions and individual patients.

Patients affected by severe uncontrolled epilepsy require around-the-clock care. Finding therapies to prevent SUDEP, control epilepsy and other rare diseases will help to reduce the economic impact on the healthcare system, carers and families, and importantly, have the potential to add years of improved quality of life to patients.

Professor Reid has been published or co-published in 15 publications within the last 12 months, including in Epilepsia and the Journal of Neuroscience, and other peer-reviewed international journals. You can access his publications on The Florey’s website here.