Mendelian, a digital health startup from the UK, has just been awarded about €1.58 million (£1.4 million) to roll out its AI-based solution for rare disease diagnosis. 

It’s estimated that about 3.5 million people in the UK alone are living with a rare disease, and many of these might not be correctly diagnosed. In fact, on average rare disease patients experience 3 misdiagnoses, visit 5 different doctors and wait over 4 years before getting an accurate diagnosis. Clearly, there needs to be a better way. Rare diseases affect 1 in 10 people worldwide and can create a lifetime of complex, disconnected symptoms.

UK-based Mendelian aims to put an end to this, by harnessing the power of AI in healthcare. The startup has just secured about €1.58 million (£1.4 million) to develop its innovative solution as part of the UK government’s investment into AI technology within the NHS.

The Artificial Intelligence in Health and Care Awards (AI Awards), run by the NHS AI Lab in partnership with the National Institute for Health and Care Research (NIHR) and the Accelerated Access Collaborative (AAC), is deploying £123 million to accelerate the development of AI tech in healthcare.

Mendelian’s Chief Executive, Dr Peter Fish: “It’s incredibly exciting to win this award, to see the NHS taking bold steps to solve 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, every one of us as health service users.”

Based in London, Mendelian has built AI-based software that enables doctors to help patients earlier.

Rare diseases impact a staggering amount of people, a level that is comparable to common illnesses such as diabetes and asthma. The difference is, rare disease symptoms often developed gradually and in different organ systems, making it incredibly challenging for doctors to diagnose. The lack of efficient diagnosis leads to poor patient experience, people suffering, and major costs to health care systems.

Mendelian’s MendelScan software, an AI case-finding tool, is currently implemented in over 50 NHS primary care practices across England. It aims to optimise how patients with unrecognised or undiagnosed rare diseases are moved towards possible diagnoses on a large scale – minimising the burden on the health system and ensuring patients are matched with the best available management and treatment.

With this award, the team will be able to further trial MendelScan within primary care electronic health records in GP practices across the UK and carry out real-world efficacy testing.

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