As we mark International Epilepsy Day, FutureNeuro reflects on a year of progress in epilepsy research. Here’s a look back at some of the highlights:
Advancing Our Understanding of Epilepsy
Bringing the prestigious 2023 International League Against Epilepsy in Dublin marked a significant milestone, drawing over 2,500 delegates from around the world. This event showcased Ireland’s leadership in epilepsy research, coinciding with the launch of the largest genetic epilepsy study involving 150 researchers worldwide. This research identified 26 distinct areas in our DNA that appear to be linked to epilepsy, including 19 specific to Genetic Generalised Epilepsy. This research underscores the power of international collaboration, and FutureNeuro is extremely proud to have played a leading role.
Translating genomic findings into the Irish hospital system has already had an impact on patient care, with FutureNeuro genetic and clinical researchers delivering genomic diagnoses for over 250 people.
New Therapeutic Possibilities
In pre-clinical research, groundbreaking research uncovered a new microRNA (miR-335) linked to epilepsy, specifically targeting voltage-gated sodium channels. This discovery opened avenues for potential gene therapy and shed light on the effects of cannabidiol (CBD) on microRNA expression in the mouse brain.
In clinical research, a trial of everolimus with DEPDC5-associated epilepsy patients yielded insights into new therapeutic benefits.
The METriC trial is testing the safety and efficacy of our microRNA therapy for the first time in dogs with severe epilepsy, revealing encouraging early results. This represents an important step toward the translation of this therapy for human use while also potentially addressing a major canine disease.
Advancing Clinical Trials
FutureNeuro’s commitment to advancing treatments for rare epilepsies is evident in the expansion of two registers. Supported by unencumbered industry funding, the EAGER (Epilepsy-associated gene ready) register is steadily identifying adult participants with rare monogenic epilepsy for crucial clinical trials, while the CINDI (Collaboration for Intervention in Genomic Disorders Ireland) register has established a robust infrastructure tailored for children with rare neurogenetic conditions.
FutureNeuro continues to work collaboratively with world-leading companies to improve the diagnosis and treatment of epilepsies. We are trialing new technology to improve the detection of seizures and are exploring the existence of genomic biomarkers to predict treatment response for specific Anti-Epilepsy Drugs. Additionally, we’re working with world-leading pharma companies to conduct early pre-clinical exploration of small molecule therapeutics for rare paediatric epilepsies.
We recognise the important role FutureNeuro plays in informing and shaping policy. Our Deliberative Dialogue in Neurogenomics workshop brought representatives from patient, clinical, research and advocacy groups together to make recommendations for the effective implementation of The National Strategy for Accelerating Genetic and Genomic Medicine in Ireland. The impact could extend beyond epilepsy and other neurological conditions, potentially influencing the path to diagnosis and overall patient care.
Amplifying the Patient Voice in Our Research
Celebrating the growing influence of our Public and Patient Involvement (PPI) panel, we recognised PhD student Mary Vasseghi as our 2023 PPI Champion for her PPI-driven research amplifying the voices of Tuberous sclerosis complex (TSC) patients, parents, and carers.
We also extended our engagement with schools through Brain Health webinars, SciFest collaborations, and Brain Health poster competitions. Exciting ventures into music with “Head with Harmony” added depth to our outreach activities, while collaborations with advocacy groups broadened understanding and directly connected our research with patients.
These milestones reflect a year of great progress, and we look forward to sharing more updates with you throughout 2024!