A Brighton doctor is officially launching a new medical research charity after his life changed dramatically when his infant daughter was diagnosed with an ultra-rare genetic condition with no known cure.
The charity, Rare People – The Research Charity, has been founded by Prof Rob Galloway, Honorary Professor at BSMS and Consultant in A&E at Royal Sussex County Hospital. The charity was inspired by his daughter Frankie, who is nearly two years old.
Frankie was diagnosed with DeSanto‑Shinawi syndrome, an ultra-rare neurodevelopmental condition affecting around 200 people worldwide. Professor Galloway said the diagnosis changed everything. “It causes developmental delay, speech and swallowing difficulties, problems with co-ordination and balance and intellectual disability – meaning she will need lifelong support from us,” he said.
“We were told there were no medical treatments. Then researchers used artificial intelligence to identify a licensed, repurposed drug that might help. Early use showed promise. So we created Rare People to fund rigorous clinical trials that would otherwise never happen.”
Professor Galloway said the charity had been designed so that donations go directly to research.
“Every penny raised goes directly to research – as all charity costs are covered personally by the founders and trustees,” he said. He added that the experience of his daughter’s diagnosis had been deeply personal. “I have spent my entire career in emergency medicine where I know how to treat my patients. But with Frankie – my daughter and the most precious patient I’ve ever felt responsible for – I didn’t have a clue what to do.”
Few people who know Prof Galloway would be surprised that he refused to accept that nothing could be done. He spent months researching the condition, connecting with experts around the world and exploring potential treatments.
The charity is already registered with the Charity Commission for England and Wales and, while it plans to support research into a range of rare diseases in the future, its first focus will be on DeSanto-Shinawi syndrome.
To mark the launch, the charity hosted a fundraising event at Rockwater Hove on Hove seafront on Sunday evening. The event included talks from leading research scientists and from Brighton and Hove Albion Football Club owner Tony Bloom and head coach Fabian Hürzeler, as well as families with first-hand experience of caring for children with the condition.