Principal Investigator:
Dr Gianpiero Cavalleri, Associate Professor, the Royal College of Surgeons in Ireland
Investment:
€148,998, over three years. 50% of the funding for this project has been made available by the Health Research Board (HRB) through the Joint Funding Scheme operated by the HRB and the Medical Research Charities Group, of which Epilepsy Ireland is a member. Epilepsy Ireland will fund the other 50% through fundraising.
About the Project:
Autoimmune epilepsy is a rare form of drug-resistant epilepsy characterised by frequent seizures in later life. Patients may respond to immune therapy, but causation of disease is poorly understood, and more targeted treatments are required. This gap in knowledge is a major priority for epilepsy specialists, and the area of greatest interest to patients.
Recently, it was found that people with this condition often carry a set of genes related to the way the immune system sees foreign bugs. However, the majority of people who carry those genes do not develop autoimmune epilepsy. This has led to the idea that autoimmune epilepsy develops as a result of an environmental factor which interacts with this genetic predisposition.
The research team proposes that certain bacteria present in the gut (the microbiome) might be providing the environmental trigger that, alongside specific genes, causes autoimmune epilepsy.
The team will recruit 100 individuals with a specific form of autoimmune epilepsy, and their siblings who haven’t developed the disease. They will collect saliva and stool from each individual, to extract human and bacterial DNA, respectively. Using state of the art DNA sequencing techniques, they will characterise the nature and number of bacteria present in the gut of people with autoimmune epilepsy and their genetically-related, but unaffected siblings. They will compare these profiles to see if the gut of people with autoimmune epilepsy has a distinctive microbiome profile.
Identifying an environmental trigger behind autoimmune epilepsy would represent a major step forward both in our understanding of autoimmune epilepsy and also for epilepsy in general, as it would represent the first link between gut microbiota and epilepsy, a link that is increasingly being made for other central nervous system diseases. In addition, it may guide a set of treatments targeting the bacteria, or the immune response to the bacteria.