At the end of 2024, Beacon’s co-founder and Chair Nick Sireau stepped down from our Trustee Board after twelve years with the charity.
This blog is written by one of our volunteers, Madison James, who recently interviewed Nick to hear more about his story and his connection to rare diseases.
Nick reflects on the strides that the rare disease movement has made, as well as his goals for the future.
When Nick Sireau’s two sons, Julien and Daniel, were diagnosed with alkaptonuria shortly after their birth in the early 2000s, the family was devastated to learn that there was no treatment or cure for the disease.
Founding the AKU Society to search for a treatment, Nick, alongside Professor Lakshminarayan Ranganath, discovered that a weedkiller could be repurposed to treat Alkaptonuria. He worked tirelessly to secure funding for a rigorous testing process from 2012-2019 which he says “surpassed even our greatest hopes”.
He says that Nitisinone, which is now approved for use in the UK and the European Union, is a “miraculous drug” which vastly reduces the symptoms associated with Alkaptonuria. Together with Professor Ranganath, Nick raised the funds needed to set up a national treatment centre at the Royal Liverpool University Hospital, ensuring that all UK patients now have access to Nitisinone.
Nick’s story serves as a prime example of the vast potential of drug repurposing, which he says is the key to providing patients with better and faster treatments.
“Drug repurposing is incredible. The whole idea of taking existing drugs that have been approved… and then developing them for other diseases, whether they’re rare or not, is an incredible idea and very promising.
The key barrier is just the system is not set up for drug repurposing.”
One of the key challenges, he says, is the role of intellectual property in the pharmaceutical industry. Investors are interested in drugs with new intellectual property, as they can create a viable commercial business which is free from competitors.
However, once this runs out and cheaper, generic drugs are introduced into the market, high regulatory hurdles mean that businesses would spend more money developing a drug to treat another disease than they would expect to receive in profit.
With this lack of incentive, those seeking to repurpose drugs, such as Nick, must rely on grants from bodies like the European Commission.
Competition for this funding is incredibly fierce.
“I think what Beacon is doing about that is really important, particularly as part of the REMEDi4ALL Consortium,” says Nick. “I would say one of the key things to do is to reform the regulatory pathway for drug repurposing to make it more streamlined, so there is more of an incentive for people to do it.
We have to tackle that, because the benefits are massive.”
Nick is now aiming to expand the potential of drug repurposing through his work with Orchard OCD, a charity that he set up in 2017 in order to accelerate the development of new and better treatments for obsessive-compulsive disorder.
Though the condition is common, affecting around 3% of the population, he believes that it has many parallels with rare disease.
“Just like rare diseases, OCD is completely ignored and marginalised, and mental health is already marginalised anyway.
I don’t think the OCD community has been as organised as the rare disease community… there is a lot to learn from what the rare disease community has done,” he adds.
In 2012, Nick gave a TED Talk about Alkaptonuria in which he shed light on the marginalisation and isolation commonly experienced by the rare disease community.
Over a decade on, he believes that the work done by organisations such as Beacon, as well as individual patient groups, has had a “transformative” impact.
“We live in a society where those who shout the loudest get heard the most,” he says.
“Obviously, there’s still a huge amount of work to be done, because there are thousands of rare diseases. 95% don’t have treatments.
But I think that the rare disease movement over the past twenty or thirty years has really accelerated and done some quite extraordinary things.
I think Beacon has played a major part in that, since we set it up as Findacure (Beacon’s former name) twelve years ago.”
