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Research Portfolio

GRANT TITLE:

New target discovery for tuberous sclerosis treatment

GRANT TYPE:

EPILEPSY RESEARCH UK & TUBEROUS SCLEROSIS ASSOCIATION FELLOWSHIP AWARD

grant amount:

£249,938 over 30 months, awarded in 2023

lead investigator:

Dr Amanda Almacellas Barbanoj

Co-Investigators:

- Supervisor: Associate Professor Gabriele Lignani (UCL)
- Supervisor: Dr Sila Ultanir (The Francis Crick Institute)

institution:

University College London

Background

Tuberous sclerosis complex (TSC) is a genetic condition where non-cancerous (benign) tumours develop in different parts of the body, including the brain. Epilepsy is a very common feature of TSC, affecting eight out of 10 people living with the condition. Over half of people with TSC who have epilepsy do not respond to standard anti-seizure medications. Epilepsy is generally more difficult to control for individuals living with TSC who have moderate or severe learning disabilities. Five out of every 10 people with TSC have learning disabilities, while around three in 10 have profound learning disabilities, needing round-the-clock care and life-long support from families or residential care. Research into TSC-associated epilepsy is urgently needed to improve outcomes for people living with this condition.

"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). With safer therapies, epilepsy patients can be treated at a younger age, preventing burdensome defects in cognition and seizure occurrence.

The Study

The aim of this project is to identify new therapeutic targets for Tuberous Sclerosis (TS) and Tuberous Sclerosis-associated neuropsychiatric disorders (TAND), enabling the development of future targeted therapies with fewer adverse side effects. Focusing on the mechanisms underlying abnormal brain development and epilepsy, this study will work with two models:

  • Tuberous Sclerosis model: capturing the abnormal brain development of TS patients
  • Focal cortical dysplasia II (FCDII) model: FCDII is an epilepsy characterised by abnormal brain development with an underlying cause very similar to TS – this makes it an advantageous tool for the study of TS

Significance

This research will improve our understanding of the relationship between TS 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.