Tuesday 28 February marks Rare Disease Day. Researchers within Aston Institute of Health and Neurodevelopment (IHN) work to improve lives of those affected by many rare diseases.
Dr Felix Chan (Lecturer in Neuroscience) discusses his research into rare genetic metabolic epilepsies and the power of rare disease advocacy in changing policies for new treatments.
Why is Rare Disease Day important to you?
It is a day dedicated to patients with rare disease who often have no choice or options left in their treatment plan of their medical conditions. As a researcher in rare genetic epilepsies, when I meet these patients and their family members/caregivers, I am often inspired by the strength and resilience that these patients and families demonstrate in dealing with their diagnosis. Ultimately, I hope that my research can bring about change, however small it is, to the life of the patients of whom their rare disease I study.
What rare disease research do you work on?
My lab at Aston has specialist interest in rare genetic metabolic epilepsies. Among the various conditions we study is a rare genetic disease called tuberous sclerosis complex (TSC). TSC is a rare neurodevelopmental disease that affects about 1 in 10,000 people. It causes many symptoms, including severe form of epilepsy that typically do not respond to available treatments. Our lab currently works on lysine metabolism as a new potential mechanism of epilepsy in tuberous sclerosis complex. This project manifested from our findings on surgical brain samples from TSC patients with severe epilepsy. Thus, in a sense, our lab and our research continue to be inspired by and involve the TSC patient community at our core. We work closely with two TSC patient charities Tuberous Sclerosis Association (TSA) in the UK and the Tuberous Sclerosis Alliance in the US. In fact, one of our current projects is funded by the US National Institute of Health (NIH) and the Tuberous Sclerosis Alliance.
What impact will your work have on the rare disease community?
If successful, our research can lead to an entirely new treatment approach for epilepsy in TSC. We are currently studying many ways to manipulate lysine metabolism for clinical benefit in the TSC patient. One approach is the use of lysine-restricted diet; which has been successful in other metabolic epilepsies like pyridoxine-dependent epilepsy. We are currently exploring the effectiveness and safety of this diet in our animal and cell model of TSC before progressing to clinical study of this diet in TSC patient s. Additionally, we are collaborating with medicinal chemists and structural biologists to develop potential new drugs to target the lysine metabolic pathways that we identified to be important in TSC. In particular, I work closely with Dr. Mandeep Marwah (Aston University) and Prof. Wyatt Yue (Newcastle University) and we currently have a PhD studentship to work on this exciting new project direction.
The 2023 global theme for Rare Disease Day is "Health Equity." What does equity in health mean to you in relation to your work?
Equity is very important for patients of rare disease; especially in access to medications and healthcare needs for managing their complex condition. In TSC patients, for example, there was recent win especially in the epilepsy front. Cannabidiol has been shown to be effective in TSC patient in controlling their epilepsy and has been approved and used in the USA since 2021. In the UK, NICE had initially rejected the use of cannabidiol for epilepsy in TSC in NHS England in December 2022. However, through advocacy effort led by the UK TSA, this had recently been repealed and cannabidiol is now available to NHS England TSC patients who could benefit from having this additional treatment option to control their severe epilepsy.
To me, this demonstrates the power that rare disease advocacy and awareness can do to change policy, move the field forward, and ultimately change the life of these patients. I am proud to be a small part of this dynamic community and hope that my research will serve the TSC patient community that needs them.
As part of my way of building awareness of TSC and this rare disease, I have also included materials about this disease as part of my neuroscience teaching program for 2nd year neuroscience students at Aston University. The students have been working as part of their practical sessions on samples from TSC cells and have been analysing them, contributing to their learning experience as well as their awareness of this rare disease. I hope to continue exposing my future students and mentees to rare disease research and why it matters.
Describe your work in 3 words
Creatively Controlling Convulsions (Epilepsies)
Fact to share with us from your work
I am the first ever NIH-TSC Alliance DSC Fellow who was awarded project funding for this idea in 2020. I will be speaking about my research at the next TSC patient event called Outlook at Leicester on 22 April 2023.
The future for the rare disease community
I see the future of rare disease research being a continued close partnership between the patient community and us, proud rare disease research teams.
Dr Felix Chan is supporting Rare Disease Day
Neuroscience students supporting Rare Disease Day
Neuroscience students supporting Rare Disease Day