Prof Bobby McFarland, Dr Laura Smith and Dr Daniel Erskine from the Wellcome Centre for Mitochondrial Research (WCMR) have recently been awarded a project grant (£230,359) from the Great Ormond Street Hospital Charity and Sparks National Funding Call 2022/2023.

The research project, titled ‘Delineating the neuropathophysiological mechanisms underpinning severe drug-resistant epilepsy in Alpers’ syndrome’ will be led by Dr Laura Smith and supported by Prof Bobby McFarland, Dr Daniel Erskine, Dr Fiona LeBeau and Dr Faye McLeod at Newcastle University.

The 3-year research project aims to explore the causes and treatments of drug-resistant epilepsy in Alpers’ syndrome, a severe childhood form of mitochondrial disease caused by mutations in a gene called POLG. It will involve studying post-mortem brain tissue generously donated from patients with Alpers’ syndrome to identify changes that occur in the brain. The team are also very excited that the project will involve developing a novel model of Alpers’ syndrome using human brain tissue donated to research following surgery. It is hoped that this will help understand what causes epilepsy in Alpers’ syndrome and provide crucial information on how seizures could be managed for patients.  

This successful grant would not have been possible without the continued investment from the Ryan StanfordAppeal, who have funded three PhD students to research Alpers’ syndrome at the WCMR including Dr Laura Smith, for which we are incredibly grateful. We look forward to continue working with them to raise awareness of Alpers’ syndrome and support our future research.

For more information on GOSH Charity grant funding, click here.