Advancing gene therapy for BPAN
Awardee: Manju Kurian
Institution: UCL
Grant Amount: $60,000.00
Funding Period: February 1, 2024 - January 31, 2025
Summary:
For those affected by progressive, life-limiting brain disorders associated with high brain iron, there are currently no effective treatments. We wish to address this important issue by developing a new therapy for children and young people with Beta Propeller Protein Associated Neurodegeneration (BPAN), a devastating condition caused by a genetic fault (or ‘spelling mistake’) in the gene, ‘WDR45’. In BPAN, the body cannot properly recycle waste products and as a result, toxic iron builds up in the brain. BPAN touches the lives of several hundred people worldwide. Affected children have developmental delay and seizures in childhood. During adolescence, there is a rapid decline in abilities, which is often so progressive that by early adulthood, many are wheelchair bound with severe dementia. BPAN is sadly associated with a high risk of premature death. There are currently no therapies that prevent the progression of BPAN. As such, we believe that developing a new treatment for BPAN is a research priority with potential to benefit hundreds of people globally. With this aim, we propose to develop gene therapy to deliver a healthy copy of the faulty gene directly into the brain. We will establish a state-of the-art laboratory model of disease (a ‘brain in a dish’) and use an excellent mouse model that shows key features of human disease, to test our gene therapy approach to see whether it rescues the problems caused by the faulty gene in BPAN. A successful gene therapy study in our laboratory will allow us to accelerate a clinical gene therapy trial for children with BPAN. Our hope is that gene therapy will halt disease progression, increase life expectancy, and provide a better quality of life for individuals and their families living with this condition.