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Mendelian Wins £500K Grant to Improve Rare Disease Dx

NEW YORK (GenomeWeb) – UK startup Mendelian has received a grant worth more than £500,000 ($653,000) from Innovate UK to implement an informatics platform intended to help general practitioners identify patients who may have rare or hard-to-diagnose diseases.

The award is part of a two-year, £940,000 project that is starting with a trial in Hertfordshire, in partnership with the Eastern Academic Health Science Network (EAHSN) and the National Health Service's East and North Hertfordshire Clinical Commissioning Group. If the technology proves successful, Mendelian hopes to roll it out to other NHS regions.

Mendelian's technology, which incorporates data analytics and what the company calls "augmented intelligence," analyzes patient symptoms to flag patients for possible genetic testing or referral to specialists. London-based Mendelian said that in the UK, it takes an average of 5.6 years, eight clinicians, and three misdiagnoses to identify the correct rare disease.

"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 personalized treatment for patients," EAHSN CEO Piers Ricketts said in a statement.

"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 taxpayers," said Peter Fish, Mendelian's head of clinical partnerships. "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."


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