AI Sparks New Hope for Kids Battling Ultra-Rare Genetic Brain Disorders

Professor Rob Galloway is a senior emergency doctor at the Royal Sussex County Hospital in Brighton. His life changed when his daughter, Frankie, was diagnosed with DeSanto Shinawi syndrome, an extremely rare genetic brain disorder that affects only about 200 people worldwide. This condition means that Frankie cannot make certain proteins that are important for her brain to develop properly. There are currently no treatments for this syndrome, and Professor Galloway admitted that, despite his medical experience, he felt lost and unsure of how to help his own daughter.

Everything changed when Professor Galloway learned about scientists in the United States who are using artificial intelligence, or AI, to search for existing medicines that might help people with rare genetic disorders. At the Mayo Clinic, researchers tested an epilepsy drug on the cells of a child with DeSanto Shinawi syndrome. When the child later took the medication, there were signs that it might be helping, although the scientists made it clear that this was not definite proof. Inspired by this, Professor Galloway founded a charity called Rare People - The Research Charity. The goal of this charity is to fund clinical trials that use AI to find and test medicines that could be repurposed to treat rare diseases like Frankie’s.

The launch of the charity was supported by Brighton & Hove Albion Football Club, where Professor Galloway serves as the senior medical advisor. The club’s manager, Fabian Hurzeler, spoke at the event, emphasizing that even small improvements can make a huge difference for children with rare diseases. For these children, a small breakthrough could mean being able to walk, communicate, or live more independently. Dr Dragana Josifova, a genetics expert from London, is also working with the charity to start the world’s first clinical trial using AI-identified drugs for rare genetic conditions. She explained that the focus is on finding targeted treatments that address the specific genetic problems, rather than just using general medicines. Professor Galloway hopes that if these new treatments work, the same approach could be used to help thousands of people with other rare diseases. He wants his daughter to have the same opportunities as other children and believes that science and hope can make a real difference in their lives.