By Professor Rob Galloway, A&E Consultant and Medical Writer
A few months ago, my youngest daughter was diagnosed with a rare genetic condition, DeSanto-Shinawi syndrome. Like many parents in that position, we were suddenly thrown into a world we knew nothing about — one filled with uncertainty, fear, and, most strikingly, a lack of options.
There are around 7,000 rare genetic conditions. For the vast majority, there are no treatments. Not because they are untreatable, but because traditional drug development simply isn’t viable when patient numbers are small. Quite simply, it is not commercially profitable for pharmaceutical companies to invest in developing new drugs for very rare conditions — and so progress is often slow, or absent altogether.
But there is another way.
We were inspired by an example of AI looking at repurposed drugs for genetic conditions where treatments are identified using AI. In some cases, children with previously untreatable conditions have shown remarkable improvements when existing drugs, originally designed for something else, are repurposed in this way. It is early, but it offers something that has been missing for so long: realistic hope.
That is why we set up Rare People – The Research Charity.
Our aim is to fund research into AI-identified repurposed drugs, using medications that are already known to be safe, but which may work for rare genetic conditions. This approach is significantly faster and more cost-effective than traditional drug development, and crucially, it creates a pathway to treatment where none previously existed.
We launched the charity on 1st March, and the response has been extraordinary. The launch evening brought together families, clinicians, and supporters, and was covered by the BBC: https://www.bbc.co.uk/news/videos/c5y4v979eqyo
On the night, we raised £30,000, and in just a few weeks we have reached £120,000, enough to fund the first half of our first clinical trial at Guy’s Hospital in London. The details of the charity and science behind the charity are shown here https://drive.google.com/file/d/1TF4God0jf1hbljZ0rojrVQIQobNCu0qP/view
Alongside this, we recently brought together 24 of the 26 families in the UK affected by this condition, together with the geneticist leading the trial, to begin planning what we hope will be the first of many studies we fund.
What has struck me most is the willingness of people to help. We have an extraordinary group of volunteer trustees, alongside medical and parental advisory boards, all giving their time freely. Importantly, we have no staff or building costs, meaning donations go directly into research.
We are starting with one condition. But the ambition is much bigger.
If we can make this model work, it could be applied to thousands of rare conditions, giving families something they have never had before: a realistic chance of treatment.
Because for too long, rare conditions have meant rare attention. That is what we are trying to change.
We are looking for help with publicity (and any press coverage on the charity being set up and the trails we are funding would be very appreciated) as well as people interested in becoming a Founder Member, supporting or taking part in sponsored events (we can set these up via JustGiving), providing auction prizes, contacting us with business who may be interested in being business partners or simply helping us raise awareness through your network.
Thank you for reading.
