The largest genetic study of its kind, coordinated by our colleagues in the International League Against Epilepsy, including scientists from our colleagues in FutureNeuro and the RCSI has discovered specific changes in our DNA that increase the risk of developing epilepsy.
The research has been published in the medical journal 'Nature Genetics', and has been published on the eve of the International Epilepsy Congress which is set to take place in Dublin from the 2nd to the 6th September.
Epilepsy is known to have genetic component and to sometimes run in families. As part of their project, researchers compared the DNA from diverse groups of almost 30,000 people with epilepsy to the DNA of 52,500 people without epilepsy. The differences highlighted areas of our DNA that might be involved in the development of epilepsy.
The researchers identified 26 distinct areas in our DNA that appear to be involved in epilepsy. This included 19 which are specific to a particular form of epilepsy called ‘genetic generalized epilepsy’ (GGE). They were also able to point to 29 genes that are probably contributing to epilepsy within these DNA regions.
The scientists found that the genetic picture was quite different when comparing distinct types of epilepsy, in particular, when ‘focal’ and ‘generalized’ epilepsies were compared. The results also suggested that proteins that carry electrical impulse across the gaps between neurons in our brain make up some of the risk for generalized forms of epilepsy.
Professor Gianpiero Cavalleri, Professor of Human Genetics at RCSI School of Pharmacy and Biomolecular Science and Deputy Director of the SFI FutureNeuro Research Centre said:
Gaining a better understanding of the genetic underpinnings of epilepsy is key to developing new therapeutic options and consequently a better quality of life for the over 50 million people globally living with epilepsy.
The discoveries we report on here could only be achieved through international collaboration, on a global scale. We are proud of how the global community of scientists working to better understand the genetics of the epilepsies have pooled resources and collaborated effectively, for the benefit of people impacted the condition.
Undertaking such a comprehensive study is a remarkable achievement that RCSI and Futureneuro are proud to have played a leading role in. The challenge now is to translate the findings of this research to improve the lives of people with epilepsy.
The researchers also showed that many of the current medications for epilepsy work by targeting the same epilepsy risk genes that were highlighted in this study. However, based on their data, the researchers were able to propose some potentially effective alternative drugs. These will need to be clinically tested for use in epilepsy as they are normally used for other conditions, but they are known to target some of the other epilepsy risk genes uncovered.
Over 150 researchers, based across Europe, Australia, Asia, South America and North America, carried out the research. They worked together as part of the International League Against Epilepsy (ILAE) Consortium on Complex Epilepsies. The ILAE Consortium was formed by researchers in 2010, recognising that the complexity of genetic and environmental factors underlying epilepsy would require research across massive datasets, and therefore unprecedented collaboration on an international scale.
Prof. Sam Berkovic, who is part of the Consortium, and will be delivering the ILAE Fred Aldermann Lecture at the upcoming Congress - as well as speaking at Night 1 of Epilepsy Ireland's public event commented:
With this study, we have bookmarked parts of our genome that should be the major focus of future epilepsy research. It will form the basis for further work looking at the molecular pathways involved in seizure generation, neuronal dysfunction and altered brain activity” said Professor Samuel Berkovic, University of Melbourne.
To read more about this emerging research, you can visit the 'Nature Genetics' website.
We would like to congratulate all the researchers involved in this study - particularly all those based in Ireland. With the eyes of the international epilepsy community already on Ireland with the International Epilepsy Congress, the Irish involvement in this study once again highlights the incredible epilepsy research which is taking place on these shores.