Healthtech startup receives Innovate UK grant for rare disease solution

Healthtech startup Mendelian has received a grant from Innovate UK to build solutions aiming to assist GPs in identifying NHS patients who potentially have rare or hard to diagnose conditions and diseases.

The grant is being used to implement the company’s screening system, which provides augmented intelligence and data analysis to deliver automated identification of patients who may fit the rare disease or difficult to diagnose categories. Once the technology has analysed a patient’s symptoms, they are then flagged to the GP who has various options, including referring the patient to a specialist or recommending further analysis and testing.

Dr. Peter Fish, head of Clinical Partnerships at Mendelian said: “It’s clear that this ‘diagnostic odyssey’ is not only causing patients distress and emotional turmoil but is also extremely frustrating for clinicians, as well as costly for healthcare systems and ultimately tax-payers. To help solve this pressing issue we’re delighted to be providing a solution within the NHS, for not only rare disease patients, but also those with hard to diagnose conditions. Crucially, Mendelian’s technology is being implemented at the general practice stage, right at the beginning of the patient journey with the aim of identifying these conditions as early on as possible.”

The total budget for the project is £940,000 with over £500,000 of this awarded to Mendelian by Innovate UK – a non-departmental public body and the UK’s innovation agency – in order to develop and implement the technology.

The project is set to run over the next two years with the first trial currently taking place in Hertfordshire, in partnership with the Eastern Academic Health Science Network (EAHSN) and NHS East and North Hertfordshire Clinical Commissioning Group (CCG). Following this, the technology will potentially be rolled out to further areas in the UK.

Piers Ricketts, chief executive at the Eastern Academic Health Science Network, said: “We are delighted to support Mendelian as part of our work into rare diseases. With over 3 million rare disease patients in the UK, innovative technologies using data analytics and machine learning like this are increasingly vital in ensuring that these conditions are diagnosed earlier to provide more targeted and personalised treatment for patients.”

Research has shown that in the UK it takes an average of 5.6 years, eight clinicians (including four specialists) and three misdiagnoses before the correct rare disease is identified. A further health economics report commissioned and released in November last year by Mendelian revealed that over the last 10 years, rare disease patients while undiagnosed have cost the NHS in excess of over £3.4 billion.




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