Rasmussen Encephalitis (RE) is a rare and devastating brain disease affecting children, leading to uncontrollable seizures, one-sided paralysis, and loss of speech or learning ability. Currently, the only effective treatment is a major brain operation – hemispherotomy – which disconnects one half of the brain, often resulting in lifelong disability. This procedure becomes necessary because RE is typically diagnosed after the point at which severe brain damage has already occurred.

This project, based at Great Ormond Street Hospital and UCL, aims to understand what causes RE and to discover early warning signs (biomarkers) which could allow earlier diagnosis and treatment. Using cutting-edge laboratory methods to examine genes, how cells function, and the body’s immune responses, the research team will analyse brain tissue, blood, and spinal fluid from affected children. This approach may reveal hidden genetic changes, immune system problems, or infections linked to the disease.

By identifying early indicators and uncovering the triggers for RE, this research will pave the way for new, less invasive treatments that could prevent severe disability. This project also supports the creation of the first UK-based support group for families affected by RE, enabling patient involvement in research priorities.