Mendelian receives over £500,000 to help identify patients with rare or hard to diagnose conditions


04 February 2019, London, UK. Mendelian, a UK healthtech startup, has received a grant from Innovate UK to build solutions that will 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 specialised screening system, which provides augmented intelligence and data analysis to deliver the fast, accurate and 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.


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.


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.”


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.”


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, as well as globally in the near future.


*https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf


** The trial will analyse pseudonymised electronic medical records to find patients that should be investigated further for rare or hard to diagnose diseases and the protection of patient data will be prioritised at all times throughout.


About Mendelian

Mendelian is a technology company building the world’s largest repository of information to help accelerate the diagnosis of rare diseases. The company is a team of eight based in London, with a wealth of experience across a range of complimentary disciplines including business, machine learning, data science, design and medicine. Currently Mendelian’s free service has been used by clinicians and specialists (geneticists, pediatricians, neurologists, cardiologists) across a range of disciplines in more than 150 countries. ­­­



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