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Dr Bruce Bloom

Chief Collaboration Officer, Healx

Artificial intelligence could revolutionise treatments for rare diseases and offer hope where there once was none – now, with the help of human insight and expertise, this is becoming a reality.

Artificial intelligence (AI) offers a new model of drug development that could help the millions of people living with a rare disease get the treatments they desperately need more quickly, safely and cost-effectively than traditional methods allow.

That’s according to Dr Bruce Bloom, Chief Collaboration Officer at technology company Healx, whose mission is to discover and develop new treatments for rare disease patients at scale.

“There are at least 7,000 rare diseases across the globe, affecting over 400 million people, but 95% of those conditions don’t have an approved treatment. The standard pharmaceutical model of developing a drug from scratch over 10 – 14 years, and spending upwards of a billion dollars to get it to patients, simply doesn’t work for most rare diseases,” he says.

“It’s unattractive for traditional pharmaceutical companies to work on most rare diseases, as the small patient populations means the return on investment won’t match the R&D costs. Furthermore, rare disease patients may not actually have the time to wait over a decade for a treatment. So, we really have to rethink the model of rare disease drug discovery,” says Dr Bloom.

Faster, cheaper discoveries can be made thanks to AI

That’s where AI comes in. It can reduce the time and money it takes to make discoveries, as well as increase the likelihood of clinical trial success by quickly identifying promising candidates. But the technology does not work alone.

AI is only one half of the solution. We also need human expertise, empathy and experience, which is why we work so closely with the patient and medical communities.

“AI complements human intelligence,” says Dr Bloom. “It sorts through all the known medical and scientific information and looks for connections in a way, and on a scale, that would be impossible for humans.”

Case in point – testing AI success with rare disease patients

Healx is currently preparing for a clinical trial of treatments for the rare neurological condition, fragile X syndrome – the leading genetic cause of autism which affects around 1 in 6000 people.

Healx worked closely with FRAXA Research Foundation to incorporate patient experience and insight into Healnet, an AI-driven drug discovery platform. Healnet analysed these insights, as well as scientific literature and research, to produce a list of possible treatment candidates. Healx’s expert pharmacologists then selected several promising candidates that moved through preclinical validation in under 24 months and quickly onto clinical trial planning.

AI future must be entwined with human, patient experience

“AI is central to the digital health revolution, not just in drug discovery, but in diagnostics, supporting medical decision-making, and helping to fight the COVID-19 pandemic,” says Dr Bloom.

“But AI is only one half of the solution. We also need human expertise, empathy and experience, which is why we work so closely with the patient and medical communities,” he concluded. This patient-centric focus has seen Healx collaborate with a number of patient groups in recent months, such as Muscular Dystrophy UK, the Children’s Tumor Foundation and the Foundation for Angelman Syndrome Research Therapeutics to understand the most urgent challenges patients face and identify new treatments to address their needs.

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