As part of our 2023 Research Awards, we are proud to co-fund a Fellowship project with the Tuberous Sclerosis Association (TSA) to develop a future leader investigating tuberous sclerosis complex (TSC)-associated epilepsy. This #NationalEpilepsyWeek we have announced that Dr Amanda Almacellas Barbanoj at the Queen Square Institute of Neurology, University College London, has been awarded funding for this collaborative study.
Why is this research needed?
TSC is a genetic condition causing non-cancerous (benign) tumours to develop in different parts of the body, including the brain. Epilepsy is a very common feature of TSC, affecting roughly eight out of ten people living with the condition. Over half of people with TSC who have epilepsy do not respond to anti-epileptic medication and may need alternative forms of treatment. Research into TSC-associated epilepsy is therefore urgently needed to improve outcomes for people living with this condition.
What will the Fellowship project achieve?
Dr Amanda Almacellas Barbanoj’s Fellowship aims to improve our understanding of the relationship between TSC and epilepsy, offering new targets for the drug and gene therapies so urgently needed for those living with TSC-associated epilepsy. With safer therapies, people with TSC-associated epilepsy can be treated at a younger age, potentially preventing the impact of epilepsy on cognition and seizure occurrence. Dr Almacellas Baranoj will also work with leading experts in the field including Associate Professor Gabriele Lignani, who was previously an Emerging Leader Fellow.
Dr Amanda Almacellas Barbanoj said:
“This study has the potential to discover new treatments to treat Tuberous Sclerosis and the Tuberous Sclerosis-associated neuropsychiatric disorders (TAND), by identifying new potential therapeutic targets for designing therapies with less adverse effects – due to a higher specificity in their action.”
Maxine Smeaton, Epilepsy Research UK Chief Executive said:
“We are proud to have joined forces with the TSA to co-fund this exciting fellowship award, that has the potential to revolutionise treatment for the 80% of people with TSC who also have epilepsy. This funding will allow Dr Almacellas to develop a new method of gene therapy for TSC-associated epilepsy, and to become a future leader in this under researched area. On a personal level I am delighted to be forging this collaboration having spent a year working closely with the incredible TSA community back in 2018. This funding really will make an enormous difference.”
Dr Pooja Takhar, Tuberous Sclerosis Association Joint Chief Executive said:
“The TSA is proud of its history of funding and stimulating Tuberous Sclerosis Complex (TSC) research. Working alongside the fantastic Epilepsy Research UK, we are excited to witness the awarded research progressing and eventually making a real difference to everyone living with the often devasting impact of TSC-related epilepsy.”