Turning genomic data into hope for those with epilepsy

In this series, we explore how genomic research is affecting our approaches to various condition areas. In this blog, we take a deep dive into rare epilepsies. 

Epilepsy: Beyond the definition 

Epilepsy is a brain condition that causes recurring seizures - sudden bursts of abnormal electrical activity. It exists on a broad spectrum, with symptoms ranging from brief, hardly noticeable episodes, to forms that are severe and even life-threatening.  

Despite affecting millions worldwide, epilepsy remains underfunded, with causes still unknown for most people, limiting the development of targeted treatments. 

For families living with it, epilepsy is far more than a medical definition. 

Maria’s story 

Maria is a mother who has been caring for her daughter for 21 years. For her, epilepsy means relentless challenges and constant vigilance.  

Maria’s daughter has Lennox‑Gastaut Developmental and Epileptic Encephalopathy, a rare and severe epilepsy that can cause up to 450 seizures a day. Alongside the seizures come intellectual disability, autism, mobility issues and the significant side effects from medications.  

Daily life also includes broken sleep, falls, injuries, loss of bladder control, emotional outbursts and self-harm. All of which has taken a profound toll on Maria’s daughter and family, with care responsibilities needing round-the-clock attention.   

Over two decades, Maria has pursued every possible treatment for her daughter. From anti-seizure drugs to EEGs, CT scans and lumbar punctures, as well as comprehensive genetic testing.  

Despite all this, the cause of her daughter’s epilepsy remains unknown. Yet Maria refuses to give up hope. She advocates tirelessly for research into complex and treatment-resistant epilepsies, believing that science can deliver better answers and better outcomes. 

The role of genomic data  

Maria’s story reflects a wider scientific challenge: for many people with epilepsy, no clear cause is identified. Most treatments do not target underlying disease mechanisms, and medication resistance remains poorly understood.  

Many affected by epilepsy have consented to share their data with researchers through the 100,000 Genomes Project and the NHS Genomic Medicine Service. The hope being that it could lead to findings that may improve care and quality of life for themselves and countless of others. 

Today, data from over 3,000 participants affected by epilepsy forms part of the National Genomic Research Library. This represents one of the largest whole genome-sequenced epilepsy cohorts in the world, and a unique resource for research.  

Researchers can access this data securely through the Research Environment, using it to drive discoveries that could impact the lives of people like Maria’s daughter. 

From real-life stories to scientific breakthroughs 

Data in the National Genomic Research Library has become an invaluable resource for epilepsy researchers. By analysing whole genome sequences, scientists are uncovering new insights into the genetic causes of this complex condition.  

Among those leading the charge is Professor Sanjay Sisodiya at University College London – a pioneer in genomic epilepsy research and Research Network lead for the Predisposition and Screening community .  

Sanjay’s work spans rare variant discovery, pharmacogenomics and climate-related epilepsy studies. His team is exploring how genomic data links to brain imaging and cognitive and behavioural profiles, revealing patterns such as earlier than expected brain ageing in some people with epilepsy.  

His other projects include expanding cohorts to study outcomes like sudden death risk; investigating Human Leukocyte Antigens – proteins of the immune system that allow us to distinguish between our own cells and harmful pathogens – to understand adverse drug reactions; and challenging traditional views of conditions such as Dravet syndrome - a severe, rare genetic epilepsy. 

Another researcher making significant strides is Dr Remi Stevelink, a postdoctoral researcher completing his residency at the University Medical Center Utrecht, specialising in paediatric neurology.  

With over 7 years' experience in epilepsy genetics, Remi has led large-scale studies, including a landmark analysis of data from over 29,000 individuals. He is now integrating data from the National Genomic Research Library with other resources, such as UK Biobank, Epi25, and the International League Against Epilepsy (ILAE) Consortium on Complex Epilepsies, to investigate genetic contributions to epilepsy and overall risk.  

Remi highlights how crucial it is to describe each person’s symptoms and medical features accurately, noting that Genomics England’s detailed clinical data offers a major advantage over broader datasets, which can sometimes misclassify cases. 

Collaboration is key 

It’s not only academic researchers making an impact, life science industry partners also play a critical role. 

Liisi Laaniste from Cosyne Tx highlights that the Genomics England Research Network is not just for academics and clinicians, but is vital for biotechnology start-ups within the Research Network.   

At Cosyne Tx, her team uses the data to uncover the true prevalence of rare epilepsies, identify underdiagnosis, and study treatment resistance. 

 2 of Cosyne’s 3 active programmes centre on epilepsy, including research into encephalopathies linked to rare forms and inactivating gene variants. These studies integrate patient-level data such as medication history and treatment response, to highlight unmet clinical needs and inform future therapies. 

This blog is just a glimpse into the incredible work across the Genomics England Research Network: Academics decoding complex genetic signals, clinicians refining phenotypes, and innovators translating insights into therapies.  

Together, they represent a united effort to turn genomic data into hope for people living with epilepsy and their families. 

Working together to accelerate progress 

Despite significant progress, there remains a big unmet need for personalised treatments for epilepsy. For many families like Maria’s, current therapies offer only partial relief, and sometimes none at all. This is why the work of our Research Network is vital. 

Research funders and organisations play a crucial role in shaping epilepsy research. Through innovation and collaboration, they help allow for breakthroughs that would otherwise remain out of reach.  

We are proud to work alongside partners such as the Epilepsy Research Institute (ERI), UK Rare Epilepsies Together, and others to increase awareness of the research potential within the National Genomic Research Library. These partnerships amplify impact, strengthen advocacy, and ensure that epilepsy receives the research it deserves. 

Bringing communities together 

The Epilepsy Research Institute’s Navigator Symposium on rare epilepsies exemplifies the collaborative spirit bringing together scientists, clinicians, and patient advocates to accelerate discovery.   exemplifies this collaborative spirit, bringing together scientists, clinicians, and patient advocates to accelerate discovery.  exemplifies this collaborative spirit, bringing together scientists, clinicians, and patient advocates to accelerate discovery.  

Initiatives such as the ERI Hub - a virtual platform with over 450 members - and the SHAPE Network, are building a connected research community while embedding patient involvement at the heart of research. This is complemented by ERI’s work on priority setting with the James Lind Alliance to ensure future research priorities align with the needs of people living with epilepsy.