TL;DR

Prof Rob Galloway, a senior emergency doctor at the Royal Sussex County Hospital in Brighton, has launched Rare People — The Research Charity. The charity will fund clinical trials of existing medicines identified by AI as potential treatments for rare genetic disorders, starting with the condition affecting his daughter Frankie.

From diagnosis to determination

Galloway’s daughter Frankie has DeSanto Shinawi syndrome, an ultra-rare genetic brain condition affecting roughly 200 people worldwide. The syndrome prevents patients from producing certain proteins needed for early brain development. There are no existing treatments.

Despite his medical expertise, Galloway described feeling helpless: “She is the most precious patient I’ve ever felt responsible for, but I didn’t have a clue what to do.”

That changed after he met researchers at the Mayo Clinic in the US who are using AI to identify existing medicines that might help rare genetic disorders. The approach uses computational power to analyse experimental data from around the world, matching known drugs to conditions they were never designed to treat.

Early signs from the Mayo Clinic

Researchers at the Mayo Clinic tested an epilepsy drug in the cells of a child with DeSanto Shinawi syndrome. Scientists reported signs of possible benefit when the child subsequently took the medication, though they have stressed this does not constitute proof of efficacy.

The case was enough to persuade Galloway to act. His charity’s first funding priority is a clinical trial for children — and eventually adults — with DeSanto Shinawi syndrome. He is working through how children outside the US, including in the UK, can participate.

A model for thousands of conditions

Dr Dragana Josifova, consultant in clinical genetics at Guy’s and St Thomas’ NHS Trust, is working with the charity to establish what could be the world’s first clinical trial using AI-repurposed drugs for rare genetic conditions. She described the approach as targeting “the specific problem in the genetic pathway, rather than giving more generic treatments.”

Galloway argues that if the improvement can be shown to be drug-driven rather than coincidence, the model could apply to thousands of rare genetic diseases.

Looking forward

The charity has backing from Brighton & Hove Albion Football Club, where Galloway serves as senior medical advisor. AI-driven drug repurposing is still in its early stages, but the approach could offer a practical route to treatments for the estimated 7,000 rare diseases that currently lack targeted therapies — conditions often too small for traditional pharmaceutical investment.