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: Preparing Australia for precision medicine in the developmental and epileptic encephalopathies
Lead Researcher: Laureate Professor Ingrid Scheffer
Laureate Professor Ingrid Scheffer is a paediatric neurologist and an international expert in the field of genetics in epilepsy.
Professor Scheffer is leading up a team from the Melbourne Brain Centre, the University of Melbourne, to develop EPILEPSY-PM, a project that will prepare Australia for precision medicine in the developmental and epileptic encephalopathies (DEEs). The most severe group of epilepsies, DEEs are defined by frequent epileptiform activity, frequent seizures (often with multiple seizure types) and developmental slowing or regression. EPILEPSY-PM will be an Australian-wide genetic epilepsy network, bringing together clinicians, researchers and families of children with DEEs. This project aims to build a database of all patients with genetic DEEs in Australia; 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 Precision Medicine for DEEs and its impact. This will help to ensure the most effective and patient-centred translation of clinical research into practice.
Project: Uncovering the hidden genetics of non-lesional focal epilepsy
Lead Researcher: Associate Professor Piero Perucca
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 from Monash University 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.
Project: A Clinical Liquid Biopsy to Diagnose Epilepsy
Lead Researcher: Associate Professor Michael Hildebrand
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.
Project: Phenotyping depression and anxiety in people with epilepsy
Lead Researcher: Dr Genevieve Rayner
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.
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!