Ipsen and Mendelian Announce Landmark Partnership to Reshape Rare Disease Diagnosis using Pioneering MendelScan Technology

Initially focusing on two rare conditions, MendelScan technology will integrate with patient records to aid primary care professionals in rapidly identifying suspected cases

Rare disease diagnosis remains a considerable challenge, with around a quarter of people affected across Europe thought to wait between five and 30 years for a correct diagnosis[i]


9 FEBRUARY 2021 – Ipsen Pharmaceuticals and rare disease digital health specialists, Mendelian, today announced the launch of a new partnership to utilise Mendelian’s MendelScan software, a Class 1 Medical Device capable of aiding the rapid identification of people with rare diseases. MendelScan software, which uses state-of-the-art technology, data capture and the latest medical knowledge, is designed to integrate into NHS systems and scan patients’ electronic health records. It will be used by general practitioners (GPs) to alert them to risk factors, enabling faster referral and diagnosis.

Commenting on the Partnership, 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.”

The Ipsen / Mendelian partnership will initially focus on two rare diseases: neuroendocrine cancers and rare bone disorders. For both conditions, time to diagnosis can be very variable, the average time to diagnosis for a rare disease is 5 years in the UK, with some waiting over 30 years, and symptoms are often mistaken for other, less serious issues. In neuroendocrine cancers, for example, symptoms can include fatigue or feeling bloated and over half of patients are thought to be advised by their GP to simply come back if symptoms persist. According to a recent survey of over 600 neuroendocrine cancer patients, almost 30% saw their GP more than six times before being referred to secondary care and diagnosis often took years from initial onset of symptoms.[ii] COVID-19 has further exacerbated referral challenges, with a DATA-CAN report noting a 70% drop of urgent referrals during the pandemic as compared to prior to the pandemic.[iii]

Mendelian Co-Founder and CEO, Rudy Benfredj adds: “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 analog 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 over 6000 rare diseases out there, we want to work with of 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.

In January 2021, the UK Government published its Rare Disease Framework, highlighting the need to improve speed of diagnosis in rare diseases as a priority. The aim of the partnership between Ipsen and Mendelian is to specifically align with this national goal, to support healthcare professionals to deliver the vision and enable the NHS and HCPs to provide the right care as quickly as possible.

MendelScan software is a Class 1 Medical Device with potential to be applied to many rare diseases. It is built to the highest standards of SaMD regulation and Data Privacy, ensuring that at every step, patient data is secure.


About Ipsen UK

Our team in the UK is a core part of Ipsen’s global biopharmaceutical business and is driven by the belief that patients don’t have time to wait. We have a biotech mindset coupled with pharmaceutical capabilities and have invested in a robust business presence in the UK that spans the early stages of R&D (Abingdon, Oxford) through to in-house manufacturing (Wrexham, Wales) so we can effectively deliver on our promise to UK patients. As part of this investment in the heart of UK life sciences, we employ over 700 people across our three major UK sites, including our commercial headquarters in Bath Road, Slough.

Our business focuses on oncology, rare diseases and neurosciences to create innovative therapies in areas of high unmet medical need. In the UK we aim to provide best-in-class treatments for a range of conditions where there are limited treatment options available for patients. In addition to the treatments we have already made available to patients in the UK, our team is continuing to research, develop and commercialise new assets to address the needs of patients who are still waiting.

About Mendelian

At Mendelian, we enable better clinical care through earlier rare disease diagnosis. For patients, the journey to diagnosis is often long and stressful. In the UK, on average, patients endure three misdiagnoses via five different doctors and a wait of over five years before receiving a diagnosis. Additionally, in the past decade alone, undiagnosed rare diseases have cost the NHS in excess of £3.4 billion.

Founded in 2015 by a group of technologists and clinical doctors, Mendelian’s software, MendelScan, uses state-of-the-art technology, data capture and the latest medical knowledge to enable and improve rare disease diagnosis. By supporting primary care physicians to quickly refer to the right specialist, we enable faster diagnosis and treatment for patients.

Through more efficient care, the company helps to significantly relieve pressure on an overstretched NHS and is scanning almost 1m patients to detect rare diseases.

Visit https://www.mendelian.co/ to find out more.


[i] EURORDIS.  Undiagnosed rare diseases at https://www.eurordis.org/content/undiagnosed-rare-diseases accessed Jan 2021

[ii] Neuroendocrine Cancer UK – Barriers to Diagnosis Report Available at https://www.neuroendocrinecancer.org.uk/wp-content/uploads/2021/01/Barriers-to-Diagnosis-report-2020.pdf  Accessed Jan 2021

[iii] Data-Can. Key fact available at https://www.data-can.org.uk/impact-of-covid-19-on-cancer-patients-and-health-services accessed Jan 2021



February 2021

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