The challenge

It takes seven years on average for a person with a rare disease to get the right diagnosis. Eastern AHSN are helping Mendelian to deliver the latest NHS innovations to reduce this time and bring high-quality care faster to those who need it. This year Eastern AHSN are a key sponsor of RAREfest 2018, a festival to raise awareness of rare conditions and bring together all stakeholders in the rare disease community alongside the general public from across Cambridgeshire and beyond.

The solution

Alongside sponsorship of RAREfest, Eastern AHSN is helping Mendelian to attain a significant grant towards our product is able to associate different symptoms and diagnoses within a patients health records to identify potential rare diseases that may otherwise not have been identified as quickly. Eastern AHSN are also working with Mendelian to pilot a trial on a small subset of 90,000 patients in collaboration with East and North Hertfordshire CCG, with a focus on the protection of patient data.

The impact

By the end of March 2019 we will have;


  • Assessed the health records of 90,000 patients within the region
  • Developed patient pathways that works alongside the current pathways within the NHS
  • Developed a workable model to expand to larger populations
  • Potentially identify patients with rare diseases much earlier than otherwise.

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If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Empowering doctors in rare disease diagnosis The rare diseases experts map The Role of the GP in Rare Disease Diagnosis and Care Mendelian receives over €570k for its rare disease diagnostics by Innovate UK Mendelian among the most innovative companies of the year by "El Pais".

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