By speeding up rare disease diagnosis, UK firms Mendelian and Ipsen want to reduce the long delays and uncertainty experienced by many patients


The MendelScan software can be integrated into NHS hospital systems (Credit: Shutterstock)

A newly announced partnership involving two UK companies will explore novel methods for speeding up rare disease diagnosis in hospitals.

A collaboration between pharmaceutical firm Ipsen and healthtech start-up Mendelian will see the latter’s MendelScan software utilised by the NHS, in an attempt to enable faster referrals and disease identification.

The aim of this partnership is aligned with those set out in the UK government’s Rare Disease Framework, which was published in January 2021 and highlights the importance of diagnosing rare diseases at an earlier stage to ensure the NHS can deliver the right care more quickly.

Ipsen and Mendelian will initially focus on neuroendocrine cancers and rare bone disorders – two diseases for which diagnosis times can be highly variable, and symptoms are often mistaken for other, less serious issues.

Dr Myles Furnace, global digital health partnerships lead at Ipsen, said: “Ipsen is delighted to be partnering with Mendelian to bring this pioneering technology forward for people affected by life-altering, rare conditions.

“Every day that goes by without a diagnosis can cause immense distress for sufferers and the risk of potentially life-threatening complications.

“Covid-19 has made diagnosis even more challenging and new, innovative tools such as this are vital if we are going to make headway into addressing this issue.

“We’re thrilled to be leading the way alongside Mendelian with a tool that is fully integrated into the NHS clinical workflow, and hope to demonstrate the value collaboration and digital health can have on improving the disease journey for people living with a rare disease.”


Mendelian’s software for speeding up rare disease diagnosis

MendelScan is a Class 1 medical device that integrates into existing NHS IT systems, and uses state-of-the-art technology, data capture and the latest medical knowledge to scan electronic patient health records, and alert GPs to potential risk factors.

The software has the potential to be applied to many rare diseases, according to Mendelian, and is built to the highest standards of SaMD (Software as a Medical Device) regulation and data privacy – ensuring that, at every step, patient data is secure.

The company’s co-founder and CEO, Rudy Benfredj, said: “Prompt diagnosis of rare diseases remains exceptionally challenging, with GPs expected to spot symptoms of conditions that many may never see in their entire careers.

“Digital technology has the potential to translate some of the analogue knowledge that has, for years, been stored only in books and the brains of the very best specialist consultants.

“By digitalising this knowledge, healthcare becomes more equitable and access to expertise is democratised – MendelScan, our core solution, can do just that.

“With more than 6,000 rare diseases out there, we want to work with industry partners who can provide additional expertise to compliment and grow the potential of MendelScan.

“Ipsen has exceptional heritage in this area and we are delighted to be taking this important step forward with them.”

Through more efficient care, Mendelian is hoping to reduce misdiagnoses and delays of several years often experienced by patients with rare diseases, also relieving extra pressure and the burden of excess costs on the NHS in the process.