THE INSTITUTE MEMO
Winter 2024
Introducing the One in 100 campaign In this issue:
Research making an impact: understanding and treating a rare genetic epilepsy
Celebrating one year as the Institute and reflecting on key milestones
A MESSAGE FROM OUR CHIEF EXECUTIVE ROSEMARIE PARDINGTON
Welcome to the Winter 2024 edition of The Institute Memo—the Epilepsy Research Institute’s biannual newsletter featuring updates on our work, groundbreaking research, and the latest news. To stay informed yearround, sign up for our e-newsletter at: epilepsy-institute.org.uk/newsletter
In this edition, we’re celebrating our first birthday as The Institute and reflecting on key milestones from the past 12 months. You’ll find updates on exciting team developments, recent workshops and events, and the latest research breakthroughs. We’re also sharing a final report from Professor Mike Cousin, whose research into potentially treating a rare genetic epilepsy with existing medicines concluded in December 2023. Professor Cousin has since gone on to secure an additional £1.04 million in follow-on funding.
We continue to be amazed by our dedicated supporters and the incredible challenges they take on to advance research. In this issue you’ll read an inspiring story from
Martin, who completed an epic cycling challenge (from Wales to France!) motivated by his granddaughter, who lives with epilepsy.
We’d like to say a heartfelt thank you to everyone who has cycled, run, jumped, climbed, trekked, fundraised or cheered to support vital epilepsy research this year—your contributions make our work possible.
Finally, we’re excited to introduce our new One in 100 campaign, which calls on the epilepsy community to unite in raising awareness, accelerating investment, and advancing research for the One in 100 people living with epilepsy. There’s strength in numbers – together, we can drive meaningful change for everyone affected by the condition. There are many ways to get involved with the campaign, so please read on to learn more!
We hope you enjoy this edition of the newsletter, and as always, thank you for your continued support.
CELEBRATING ONE YEAR OF THE INSTITUTE
£2 million
record research investment as part of our 2024 Research Awards, involving 58 researchers and collaborators on 14 projects
people supported vital epilepsy research through challenge events or fundraisers over 270
over 640
researchers signed up to The Hub - our online portal for researchers working in the field of epilepsy and associated conditions
£1.47 million
awarded to the Institute from the UK Government Medical Research Charities Early Career Researcher Fund
Attended over XX conferences, meetings
£5.41
over 660
leveraged in follow-on funding for every £1 invested in research by the Institute
now signed up to the Shape Network - the UK’s largest network of research-interested people affected by epilepsy
THE LATEST EPILEPSY AND INSTITUTE NEWS
John Williams announced as the Institute’s Chief Scientific Officer
With extensive experience delivering globally impactful research through collaboration and attracting investment, John will play a pivotal role in shaping and implementing the Institute’s research strategy to radically advance epilepsy research for the one in 100 people affected by the condition.
Epilepsy Research Institute hosts SUDEP workshop
In September, we held a workshop on Sudden Unexplained Death in Epilepsy (SUDEP) hosted by
our Mortality, Morbidity & Risk theme leads. The event brought together leading researchers, clinicians, charity organisations and people with personal experience of epilepsy and SUDEP. This resulted in the identification of numerous collaborative research opportunities. In the coming months, a workshop paper will be produced to maintain momentum and foster a co-ordinated approach among basic science and clinical researchers. Working together, the team aims to uncover the links between epilepsy and SUDEP and pave the way forward for preventative measures.
“Unfair, unjust and preventable.” Institute-funded study finds people in deprived areas at 34% increased risk of epilepsy
Initial findings from Dr Kathryn Bush’s 2022 fellowship project, which assessed socioeconomic inequalities for people living with epilepsy in the UK, have been published in The Lancet, a prestigious international medical journal. Kathryn said, “this study has shown that there are widespread differences in who
develops epilepsy, according to the levels of deprivation where they live. These differences are unfair, unjust and preventable. We are working with large UK data-sets to try and identify what is causing the differences in who develops epilepsy between the different areas. Once we have identified these factors, we can work out what can be done to try and reduce the risk of epilepsy in our most deprived communities.”
Celebrating the founding funders of the Epilepsy Research Institute
We welcomed supporters to our office for the unveiling of our Founders Wall, recognising their pivotal role in the formation of the Epilepsy Research Institute. As well as thanking those who attended for their contribution to our work, the event was also an opportunity to discuss the progress we have made since the establishment of the Institute in October 2023.
Collaborating
on a global scale
In September, the Epilepsy Research Institute was delighted to attend the International League Against Epilepsy (ILAE) 15th European Epilepsy Congress in Rome, where leading epilepsy professionals shared the latest advances in epilepsy care. Following this, our Chief Executive, Rosemarie, was proud to present at the International Bureau for Epilepsy Convention — a two-day workshop that brought together representatives from epilepsy associations worldwide. Rosemarie discussed the work of the Institute, including our Patient and Public Involvement and Engagement (PPIE) group — the Shape Network.
RESEARCH MAKING AN IMPACT
Final report: Understanding and treating DNM1 epilepsy
Professor Mike Cousin
University of Edinburgh
In 2020, the Epilepsy Research Institute funded a project led by Professor Mike Cousin to explore whether issues with a process called endocytosis could give rise to a rare form of epilepsy caused by the DNM1 gene. The team at the University of Edinburgh also explored whether existing drugs used to correct faulty endocytosis could be used to treat epilepsy. Since the project ended in December 2023, Professor Cousin has gone on to secure a further £1.04m in follow-on-funding from the Medical Research Council (MRC). In this interview we ask Professor Cousin about the potential impact of this research for people living with epilepsy.
What is DNM1 epilepsy?
Epileptic encephalopathies (EE) are a group of severe epilepsies where seizure activity overrides the normal function of the brain. This is often caused by genetic mutations and can result in drug-resistant epilepsy. One specific type of EE is caused by mutations in the gene DNM1 (DNM1 EE) which is involved in a brain communication process called endocytosis.
What were the findings from this
project?
To test our hypotheses, we generated a mouse model that carried the most common human DNM1 mutation to replicate DNM1 EE. As predicted, we found that brain cells from this model displayed a specific defect in endocytosis. In addition, the model displayed defects in brain communication that result in overexcitability, as well as seizure-like
behaviour. Therefore, the mouse model was a robust and accurate model of DNM1 EE in which to test new drugs.
An existing drug was identified which accelerated endocytosis in unaffected brain cells. We believed that due to these properties, the drug could also correct the epilepsy characteristics in our mouse model. This turned out to be the case, with the drug correcting dysfunction in 1) endocytosis, 2) brain excitability and 3) seizure-like behaviour. Importantly, this drug also corrected endocytosis in cells that had different DNM1 mutants, suggesting it could be used for other types of EE.
What does this mean for people affected by epilepsy?
By identifying that dysfunctional endocytosis is causal in epileptic encephalopathy, endocytosis itself
can be targeted, in addition to the affected gene. For people with genetic epilepsies, this provides a new avenue for potential therapeutic interventions. This includes the drug we identified in the project which could be rapidly translated to clinical trials of DNM1 EE and other epilepsies, as well as further existing drugs yet to be identified.
Now the project has finished, what’s next?
Since this project has finished, I have been able to secure a further £1.04m in funding from the MRC. In this follow-on project, we will be investigating how the drug they identified works and whether it has wider therapeutic potential. We will also be using gene therapy techniques to determine whether the removal of the DNM1 gene could effectively treat epilepsy.
This color-coded image shows two nerve terminals after releasing neurotransmitters. It highlights the next step, where two recovery processes, clathrin-mediated endocytosis (CME) and activity-dependent bulk endocytosis (ADBE), create new storage areas (purple and dark blue) alongside existing ones (pink and light blue).
Supported by family and friends, Martin took on a 1000-mile cycling challenge in June inspired by his granddaughter, Eliza, who was recently diagnosed with epilepsy. We sat down with Martin, a retired company director based in Wiltshire, to discuss his ambitious challenge, the impact of epilepsy on his family and their determination to raise funds and awareness of the condition.
Why did you decide to take on this challenge?
We originally came up with this idea following issues faced after Eliza’s epilepsy diagnosis. First, not understanding the initial signs and wishing they were more widely understood. Second, trialling medications and finding out they don’t always work. Finally, the side effects of the treatments and how they were impacting Eliza.
We chose to do an event to help raise
LIFE WITH EPILEPSYMARTIN & ELIZA’S STORY
Family completes 1000-mile bike ride for granddaughter and epilepsy research
awareness of epilepsy through cycling 1000 miles, be it on the road, at home on a training bike, or by whatever means necessary. I worked out it was roughly 500 miles from Eliza’s house in West Wales to the family home in France. So, I said I’d do 500 if the family did the rest!
What reflections do you have after completing the cycling challenge? What an adventure! At the first stop for coffee in Tregaron, the coffee shop owner asked what we were doing, then immediately added the JustGiving link to their Facebook group and took £20 out of the till as a donation. This was the first of several acts of generosity that made the whole event so special. On arrival at our hotel on day four we spoke to a chap who lives with epilepsy. He told us how the condition affected his life and the impact of medication, the side effects and continued seizures. It was sad to hear his story but it made me more
determined to continue. Although he cannot work to earn a living, he gave us a donation. I was truly touched. Our final day of riding involved 65 miles in over 30-degree heat in open countryside, which was a challenge. There were plenty of stops and pouring of cold water on our heads to cool down. We realised my bike had a puncture, our first for anyone in the whole journey! So, changing bike, Richard and I cycled the last part of the journey together. As we arrived, family member Kurt was there with a bottle of bubbly!
Having walked or cycled every inch of the 530-odd miles we travelled, I honestly thought it was not something I could do physically. Now complete, I can look back with a huge sense of pride.
I could not have done any of this without the support of my family and friends, who have been quite simply brilliant. They’ve devoted their time and own money to help us complete this challenge – as I said to them, ‘you only know your true friends when they celebrate their life with you’. What friends I have and what a celebration.
How has epilepsy affected Eliza and your family?
Eliza has struggled with speech
for the past couple of years, which has significantly hampered her confidence. We have since found out this is often the case with children who have epilepsy, and we had missed several other signs. Her speech and reading have improved since she began medication, though she has still been having seizures. The anxiety around what is happening to her has also increased.
Whilst we work hard to ensure Eliza believes she can still do everything a seven-year-old child should be doing, she is often scared to be alone. This has significantly impacted her feelings of independence.
What are your hopes for the future of epilepsy research and awareness around the condition?
I have several. First, regarding Eliza’s case, we want parents to gain a better understanding of epilepsy so that they can recognise the first signs of the condition sooner. Second, for greater research into the causes of epilepsy.
Finally, and possibly the most important for now, I would like to see improvements in medication so we can move the number of people being successfully treated from around 65% to as near 100% as possible.
INTRODUCING THE ONE IN 100 CAMPAIGN
experience uncontrolled seizures 30%
LIVING WITH UNCERTAINTY LIVING WITH FEAR LIVING WITH EPILEPSY
Tragically, there are 3 epilepsy-related deaths every day in the UK have no known cause for their condition 50%
It’s time to change these numbers for good.
The One in 100 campaign is calling on the epilepsy community, funders, government, pharma and key stakeholders to unite in our mission to…
Raise awareness for the One in 100
Accelerate investment for the One in 100
Advance research for the One in 100
The people behind the numbers.
At the heart of the campaign are real people impacted by epilepsy. Meet Faye, Joy and Murray; just three of the people behind the numbers whose stories reflect the hardships, the heartbreak—and the hope—of living with epilepsy.
“I have been a child with epilepsy and a young adult at university managing my epilepsy alone for the first time. I have travelled the world, and I have been a woman, a pregnant woman and now a mum with epilepsy. It has given me a unique insight into life with this condition. More than ever in recent years, the need to advocate for women with epilepsy has been at the forefront of my mind.”
“I want to raise awareness of epilepsy as I found there was still such stigma attached to the condition. I want to raise funds for research as without this, how will there ever be a cure? My sister no longer has a voice, but I will be her voice. I will keep her name alive and do everything I can to prevent other families from enduring the loss we have.”
“I have walked with epilepsy for 28 years. Much has changed on my journey but there is still so far to go for everyone living with the condition. Without new research, there would be no new tests, treatments, prevention, technology or understanding of epilepsy. There would be no understanding of how to support people to enjoy the best quality of life.”
Only by working together, can we drive forward meaningful change and make a real difference for those affected by epilepsy. We need your support — your donations, your campaigning, your advocacy — to ensure we can deliver on our ambitious strategy and advance research for the One in 100.
Help us fund the next generation of research innovations
Whether it’s a one-off donation or signing up to be a regular giver, all the money raised in the One in 100 campaign will drive and enable life changing research into epilepsy.
Invite your local MP to support epilepsy research
Use our letter template and MP finder to help us ensure that epilepsy remains a priority in Parliament and on the agenda of policymakers.
Spread the word and help amplify our message
Use our campaign resources to help raise the profile of epilepsy research and encourage more people to join the movement for the One in 100.
