Commission on Genetics
The driving principle behind the Consortium is that through collaboration and synergy, we will make more progress towards fully understanding the inherited components of epilepsy than can be achieved by individual groups.
The ILAE Consortium on Complex Epilepsies was conceived at the December 2009 meeting of the Genetics Commission of the ILAE. The background at that time was that although epilepsy is a highly heritable group of disorders, there had been modest progress in identifying common variation through association studies. In many ways, epilepsy had lagged behind other common disorders. Through the experience in other diseases, it was clear that the key to successful genome wide association studies (GWAS) was large sample sizes with the merging of independent cohorts for meta-analysis.
There was an open discussion of the proposal at the Rhodes meeting in June 2010 where the committee structure and Charter were developed. By the Rome August 2011 meeting the working committees had been formed and regular teleconferences commenced. A crucial meeting was held at the Royal Society, London, in March 2012, and following that the activities of the Consortium became much more focussed and efficient.
A formal Charter has been developed and signed by all members. The driving principle behind the Consortium is that through collaboration and synergy, collectively we will make more progress towards fully understanding the inherited components of epilepsy than can be achieved by individual groups. It follows that membership of the Consortium carries advantages for which some sacrifices of autonomy are considered to be a reasonable price – the collective benefits considerably outweigh the individual restrictions.
Membership and Committee Structure
The founding contributing groups include: EPICURE, EPIGEN, SANAD/Melbourne collaboration and groups from Philadelphia and Hong Kong. Subsequently the pharmacogenomics cohort EpiPGX has become involved, as well as groups from Brazil and Austria, the GenEpa Finnish, Swiss and Norwegian collaboratives and Janssen. Most recent contributions stem from the Epi25 Collaborative.
The current committee structure is as follows:
- Governance Committee: Sam Berkovic, Dan Lowenstein, Anna-Elina Lehesjoki and Alastair Compston
- Strategy Committee: Sam Berkovic (non-voting Chair), Holger Lerche, Bobby Koeleman, Sanjay Sisodiya, Erin Heinzen, Russ Buono, Hakon Harkonarson, Mike Johnson, Terry O’Brien, Patrick Kwan, Larry Baum, Reetta Kälviäinen, Iscia Lopes-Cendes, Roland Krause, Dennis Lal, Qingqin Li, Dan Lowenstein, Gianpiero Cavalleri, Karen Oliver (co-ordinator)
- Phenotyping Committee: Dan Lowenstein (non-voting Chair), Pasquale Striano, Chantal Depondt, Dennis Dlugos, Tony Marson, Patrick Kwan and Wolfram Kunz
- Analysis Committee : Gianpiero Cavalleri, Bobby Koeleman, Melanie Bahlo, Doug Speed, Jonathan Bradfield, Stacey Cherny, Roland Krause, Siwei Chen, Ciaran Campbell, Costin Leu, Nasir Mirza, Remi Stevelink, Dennis Lal, Michael Nothnagel, Oluyomi Adesoji, Karen Oliver, Hamidah Ghani, Emadeldin Hassanin and Patrick May
A full list of current contributors are listed at the end of our most recent primary paper.
Any epilepsy researcher is welcome to join the Consortium. Meetings are held in person once or twice a year, with teleconferences approximately every 2-3 months.
At the present time, analysis has been confined to cohorts that have already undergone SNP genotyping. Funding has been provided by the ILAE to facilitate meetings and a small amount of experimental work, but further major studies will require specific grants.
Current and Future Plans
As of 2021, we are actively working on our third primary GWAS where we will almost double again our sample size. This is in large part due to contributions from the Epi25 Collaborative. Future directions and focus will include sub-analyses of the current data set into particular subtypes of epilepsy. Secondary projects of interest are being worked on in parallel to the primary GWAS with many resulting in additional publications.
The summary statistics for all ILAE Consortium on Complex Epilepsies analyses are available for download from epiGAD.
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