London AI health startup awarded over £1.4m to accelerate rare disease diagnosis

Mendelian, a London based digital health company building software tools to help doctors identify rare disease patients faster and diagnose them earlier, has been awarded over £1.4m to further develop and roll out its solution.

The Artificial Intelligence in Health and Care Awards, run by the NHS AI Lab in partnership with the National Institute for Health and Care Research and the Accelerated Access Collaborative, deploys £123m to accelerate the testing and evaluation of the most promising AI technologies that meet the aims set out in the NHS Long Term Plan.

Mendelian is one of nine companies to be awarded through the third round of the AI in Health and Care Awards, which sees the government invest £16m into pioneering artificial intelligence research.

Mendelian’s MendelScan software, an AI case-finding tool, is currently implemented in over 50 NHS primary care practices across England, with the aim of optimising how patients with unrecognised or undiagnosed rare diseases are moved towards possible diagnoses on a large scale.

This minimises the burden on the health system and ensures patients are matched with the best available management and treatment.

3.5 million people in the UK are living with a rare disease, most may not yet be correctly diagnosed. On average, rare disease patients experience three misdiagnoses, visit five different doctors and wait over four years before receiving a diagnosis in the UK.

The award will enable MendelScan to be further trialled within primary care electronic health records in GP practices across the UK and carry out real-world efficacy testing, aiming to build valid evidence of the software’s effectiveness and explore the potential for nationwide adoption across the health service.

Mendelian’s chief executive, Dr Peter Fish, commented: “It’s incredibly exciting to win this award, to see the NHS taking bold steps to solving one of the most complex challenges in modern medicine.

“This will unlock our journey towards shifting the way healthcare systems improve care for rare disease patients, delivering benefit to the NHS, the doctors who use the tool and, most importantly, everyone of us as health service users.

By Matthew Neville – Senior Correspondent, Bdaily

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