In line with our commitment to high-quality research and high-quality researchers, the Epilepsy Foundation supports cutting-edge Australian research. This research aims to help find novel treatments for epilepsy, with the aim of one day finding a cure, and to identify the best information for supporting people living with epilepsy today.
Projects funded through the AERF:
The Epilepsy Foundation would like to congratulate the recipients of funding through the inaugural round of the Australian Epilepsy Research Fund – we are excited to be able to fund such cutting-edge research, examining the genetic basis of epilepsy and mood disorders in epilepsy, with the hope of improving the lives of those living with epilepsy.
Project: Reducing epileptic seizure frequency with transcranial direct current stimulation in patients with drug-resistant temporal lobe epilepsy: A placebo-controlled randomised trial
Lead Researcher: Dr. Maryam Zoghi
Timeline: 2 years
Dr. Maryam Zoghi is leading research on whether transcranial direct-current stimulation over the temporal lobe reduces the seizure frequency for people with drug-resistant temporal lobe epilepsy.
Temporal lobe epilepsy is a common type of focal epilepsy. It can be challenging for people with this type of epilepsy to be seizure-free with medication alone.
Transcranial direct current stimulation is the process of running a low current of electricity through electrodes placed on two areas on the head to decrease the activity of the epileptic area in the brain; this process is painless and non-invasive. In this study, the treating electrode is placed over the temporal lobe.
A comparison will be made against a group receiving a placebo stimulation to determine whether this treatment is effective. This placebo group will continue to receive their regular medication.
The aim of the study is to achieve a significant reduction in a person’s seizure frequency by four weeks and an overall improvement of their health-related quality of life by two months compared to the placebo group.
This study is currently recruiting participants.
Project: Improving first seizure assessment and management
Timeline: 2 years
Patients attending Emergency Departments after a first seizure receive variable and not always evidence-based management. The extent to which this impacts health and economic outcomes has not been systematically studied. This project will identify outcomes for 10,863 first seizure patients who attended four Melbourne hospitals over a 10-year period, and specifically assess the impact of First Seizures Clinics, a health intervention aiming to optimise first seizure care. This project aims to improve healthcare for people living with epilepsy, identifying important comorbidities accompanying first seizures and limiting or preventing adverse consequences of seizures.
So far, of the people observed attending Emergency Departments after their first seizure, 20.2% failed to attend their First Seizure Clinic appointment. People who miss their first appointment are 2 to 3 times more likely to have future hospital attendances. This finding emphasises how important it is for people to attend their First Seizure Clinic appointment in order to properly manage their seizures and epilepsy.
Project: Preparing Australia for precision medicine in the developmental and epileptic encephalopathies
Lead Researcher: Laureate Professor Ingrid Scheffer
Timeline: 5 years
Laureate Professor Ingrid Scheffer is a paediatric neurologist and an international expert in the field of genetics of the epilepsies.
Laureate Professor Scheffer leads a clinical and research team at the University of Melbourne, Austin Health, to develop EPILEPSY-Precision Medicine (PM), a project that will prepare Australia for precision medicine in the developmental and epileptic encephalopathies (DEEs). DEEs are the most severe group of epilepsies and are defined by frequent seizures (often with multiple seizure types), frequent epileptiform activity and developmental slowing or regression. EPILEPSY-PM will be an Australian-wide genetic epilepsy network, bringing together clinicians, researchers and families of children with genetic epilepsies, with a particular focus on DEEs. This project aims to build a Natural History Study of all patients with genetic DEEs in Australia and beyond; develop fine-grained tools to determine whether Precision Medicine therapies produce changes in development, motor skills and comorbidities; and to understand families’ and clinicians’ attitudes to DEEs and the likely impact of Precision Medicine. This will help to ensure the most effective and patient-centered translation of clinical research into practice.
Extensive work has been performed in the development of a complex database centered on both the patient and clinician perspective. The database is currently undergoing sophisticated cyber security testing prior to release. Tools for determining developmental changes are being developed, focusing on online resources to help meet the demands of the current climate. Recruitment and data collection from patients is currently underway. A network of Paediatric Neurologists and research teams around Australia is contributing to this recruitment.
Project: Uncovering the hidden genetics of non-lesional focal epilepsy
Lead Researcher: Associate Professor Piero Perucca
Timeline: 2 years
Associate Professor Piero Perucca is an epileptologist and leading researcher in the field of epilepsy genetics and the treatment of epilepsy.
Genetic determinants of focal epilepsies have long been underestimated, owing to the widespread perception that these disorders are largely attributable to acquired brain lesions. However, in most cases, no epileptogenic lesion is detectable on MRI (non-lesional focal epilepsies). Led by Associate Professor Perucca, a team comprising investigators from Monash University and The University of Melbourne are setting out to uncover the hidden genetics of non-lesional focal epilepsy through a novel approach combining clinical and molecular research. This research is key for designing novel and more targeted therapies in the future, and for improving patient care.
More than 70 patients who have been newly diagnosed with non-lesional focal epilepsy have been involved in this study. Currently, data collected from the first two years is being analysed. One significant finding to date is that there can be genetic links that cause some types of focal epilepsies. The findings from this research will be presented at multiple national and international conferences throughout the year.
Project: A Clinical Liquid Biopsy to Diagnose Epilepsy
Lead Researcher: Associate Professor Michael Hildebrand
Timeline: 4 years
Associate Professor Michael Hildebrand is an internationally recognised neurogeneticist.
A key task in the future of understanding genetic epilepsies is the identification of the underlying genetic mechanisms. Associate Professor Hildebrand and a team from the Melbourne Brain Centre, Austin Health, to investigate a cutting-edge technique to detect the “hidden genetic” components of epilepsy through examination of somatic mutations. The proposed technique involves the detection of somatic genetic variation in the brain by using a minimally invasive lumbar puncture to obtain cerebrospinal fluid. This would then be applicable to epilepsies and other brain disorders to maximise gene discovery and, eventually, for translation of Precision Therapies to the clinic.
Currently, 201 spinal fluid samples have been collected from 160 patients with epilepsy and 41 from patients without epilepsy. A significant finding so far is the possibility of using spinal fluid to detect and monitor epilepsy. These findings mean that spinal fluid may be a way of diagnosing the cause of some types of epilepsy. The information collected from this study has contributed to three peer-reviewed publications.
Project: Phenotyping depression and anxiety in people with epilepsy
Lead Researcher: Dr Genevieve Rayner
Timeline: 4 years
Dr Genevieve Rayner is a clinical neuropsychologist and outstanding early career researcher in the field of epilepsy and mood disorders.
Depression and anxiety commonly co-occur with epilepsy and can often go undiagnosed, significantly impacting the quality of life of people with epilepsy. Dr Rayner and her team from the University of Melbourne are taking an exciting and novel approach to understanding depression and anxiety in epilepsy by examining whether genes that cause specific epilepsies are associated with depression and anxiety. This will help to expand our understanding of the different ways in which depression and anxiety may manifest depending on the underlying genes, and may open up exciting new opportunities for the treatment of mood disorders in epilepsy.
Currently this project has recruited and started collecting data from dozens of participants from more than 20 different families. To this point, the data collected from this project has contributed to one peer-reviewed Q1 journal articles.
Florey Syngap-1 Gene Project
The first project funded through the AERF scheme is being conducted by a team from the Florey Institute of Neuroscience and Mental Health, led by Professor Steven Petrou. This team is hoping to establish a sustainable program of “precision medicine” – in other words undertaking research that helps to deliver targeted diagnostic techniques and treatment options for rare genetic conditions of the brain.
The current project funded by the AERF is an important step in this direction – this project is looking at the SYNGAP-1 gene. Mutations in the SYNGAP-1 gene can cause a rare form of early-onset epilepsy commonly associated with developmental delay and intellectual disability.
This research is in the early stages – examining how the gene is expressed and how different treatment approaches work in mice with the SYNGAP-1 mutation. The research, however, is well underway and we are very excited to hear more about the outcomes as the study progresses – watch this space!