Meet the team: Angeliki Vakrinou
Working with our Director of Genomics Professor Sisodiya, Angeliki is conducting a PhD project on Clinical Genomic Risk Profiling in Epilepsy. Her research uses whole genome sequencing (WGS) to identify genetic factors that contribute to epilepsy, with the goal of integrating genetic testing into routine clinical care.
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Why did you choose to research epilepsy?
Epilepsy, has fascinated physicians and scientists for centuries. It’s a condition with so many different faces—affecting people in diverse ways—yet so many mysteries remain unsolved. I’ve always been drawn to trying to contribute by answering these questions, with the potential to transform lives for individuals living with epilepsy.
If there is a personal connection, what inspired or drove you to research this area?
As a student, I helped with overnight EEG studies, assisting with recruitment and placing electrodes to record brain activity. I became fascinated by the complexity of the brain’s electrical rhythms and the many ways seizures can present. During this time, I also met many people with epilepsy. What struck me most was not just the challenges of the condition itself but how poorly understood it is by the general public.
People with epilepsy often spoke about feeling isolated or judged because of the unpredictability of seizures and how they can appear dramatic in public. Imagine going about your day not knowing when a seizure might strike, making you feel exposed and vulnerable. This human side of epilepsy motivated me to dig deeper into the condition. Today, as a researcher and medical professional, I’m still amased by its complexity and the wide-reaching impact it has on those who live with it.
What is your area of specialism?
Under the supervision of Professor Sisodiya, I specialise in the genetics of epilepsy. The past two decades have brought incredible advancements, particularly in how we study DNA. We now have tools like whole genome sequencing (WGS) that allow us to look at a person’s entire genetic code in detail. This technology helps us uncover genetic factors that contribute to epilepsy, providing valuable insights into the condition and paving the way for more personalised care.
What do you find most interesting about your job and the area of research that you do?
One of the most exciting aspects of my work is the sheer number of unknowns still left to explore in epilepsy. What I find especially compelling is the growing realisation that epilepsy isn’t just about seizures—it’s often part of a bigger picture that includes other symptoms and conditions. Understanding epilepsy as more than "just seizures" allows us to take a more holistic approach, which I believe is the key to providing better care and support for people living with this condition.
What is your research project called?
Clinical Genomic Risk Profiling in Epilepsy.
Please provide a brief description of your research project
Epilepsy can have a genetic cause, meaning it’s linked to changes in a person’s DNA. Thanks to new technologies, we can now look at someone’s entire genetic code to better understand their epilepsy. My research uses this technology, called whole genome sequencing (WGS), to see how specific genetic information might help doctors improve diagnosis and treatment.
The idea is to build a “genetic profile” for each person, combining this with detailed information about their epilepsy and other health conditions. These profiles could give us clues about the best treatments or help predict how someone’s epilepsy might change over time.
So far, I’ve found that even for people who are diagnosed later in life, genetic testing can still be helpful. It’s not just about finding the cause of their epilepsy—it can also guide doctors on the best medications to use. My hope is to show that genetic testing can be useful for everyone with epilepsy, not just those with severe cases, and to make it part of routine care in the future.
How long is your research project and what outcomes are you hoping to achieve?
I’m currently in my third year of my PhD and aim to finish by summer 2025. My goal is to show how genetic testing can benefit people with epilepsy in new and practical ways. Right now, genetic testing is mostly used for the most severe cases, but I believe it can be helpful for everyone.
By using each person’s unique genetic information, there is the potential to improve diagnosis, find better treatments, and even create tools to help doctors provide quicker, more personalised care. Ultimately, I hope my work can influence how epilepsy is managed in the NHS and beyond, helping more people benefit from these advances.
Who are the main supporters of this research?
The Epilepsy Society has been the main supporter of my PhD project, and I am incredibly grateful for their kindness and belief in this work. Their support allows me to pursue this research and contribute to the lives of people with epilepsy.
How will the research benefit people with epilepsy?
This research aims to make genetic testing more accessible and useful for everyone with epilepsy. By using genetic information, we can help doctors understand an individual’s epilepsy better, identify the most effective treatments, and provide more personalised care.
In the long term, this could mean fewer delays in diagnosis, more targeted therapies, and better overall management of epilepsy and the accompanying conditions, improving the quality of life for many people living with the condition.