Therapeutics
Background
There is a need for faster, more accurate diagnostics in neurology, to inform treatment pathways. FutureNeuro researchers focused on the identification of novel genetic risk factors, for improving clinical diagnostics in the Irish neurology clinic, and using genomic diagnostics to guide novel treatment approaches.
Breakthrough
FutureNeuro played a leading role in the largest genetic study of epilepsy to date. Through a global consortium of the International League Against Epilepsy, we compared the DNA from almost 30,000 people with epilepsy to 52,500 controls. This identified 26 genome-wide significant loci, 19 of which were specific to genetic generalised epilepsy. We found markedly different genetic architectures between focal and generalised epilepsies. The genes we discovered for common epilepsy overlapped with those that cause rare, monogenic forms, and with targets of current antiseizure medications. These data were then used to suggest alternate drugs with predicted efficacy, if repurposed for epilepsy treatment. Collectively, the findings represent a significant step forward in our understanding of epilepsies.
Potential Impact
Together with our clinicians we worked to further develop clinical diagnostics, assisting with the reanalysis of screen-negative genetic cases, organising hospital-level and national multi-disciplinary team meetings, and connecting the clinical teams with European efforts on rare disease such as SolveRD. This has directly impacted patient care with learnings directly emerging from FutureNeuro leading to a genomic diagnosis made in over 250 individuals in the Irish healthcare system.
Read the full publication here
