EMERGING LEADER FELLOWSHIP AWARD
£250, 000 over 36 months, awarded in 2022
Exploring the mechanisms behind early onset genetic epilepsies using human brain tissue
Dr Faye McLeod
Newcastle University
Early-onset genetic epilepsies can be devastating for patients and their families. It is not clear how the faulty genes cause epilepsy, but the problems are likely to start before birth. This makes them extremely challenging to study. Dr McLeod and colleagues have established a way to maintain developing human brain tissue in a laboratory environment, enabling them to alter genes of interest, and thereby study the consequences on the developing brain. They will now translate this into a clinically applicable tool for investigating disease mechanisms in genetic epilepsy.
"This fellowship is a crucial steppingstone in my research career, as I become an independent investigator in the field of genetic epilepsies. The techniques I am developing offer so much potential for translation, from understanding how some faulty genes may cause epilepsy, to testing novel therapies and drugs on developing human neurons. I’m really excited about the advances in new knowledge my method offers neurologists and people affected by epilepsy, and hope that I can make a real difference.
The researchers will generate so-called “organotypic cultures” which are small pieces of a developing human brain that are kept in a dish. The cultures can be kept for approximately 2-3 months, during which time, the brain cells are well preserved. This new approach will be used to investigate how certain genes affect early brain development. Initially, this work will focus upon one gene, called STXBP1. It is one of the most common single-gene epilepsies and has an overlapping role with many other epilepsy risk genes.
The project will extend our understanding of how STXBP1 mutations cause early-onset epilepsy. It will also lay the groundwork for much more, because this is a highly adaptable method that could readily be used to investigate any genetic epilepsy.
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