Focus on: rare diseases From insight to impact: Jo Balfour, Managing Director of the Cambridge Rare Disease Network (CRDN), explains how we have worked together to understand the challenges faced by people living with a rare disease and how they might be addressed through innovation S CRDN rare diseases upporting the development of innovations to address some of the challenges faced by people living with rare diseases is a priority area for Eastern AHSN and is underpinned by the recommendations of the UK Rare Diseases Framework. We A rare disease affects fewer than 1 in 2,000 have been delighted to partner with Eastern AHSN for the past three years. During this time, we have deepened our relationship and what we most appreciate is the time the AHSN has taken to listen to the needs of our community and really understand how it can mobilise entrepreneurs and their innovations to help this often-overlooked group. In 2020, we partnered to survey the rare disease community, during our RAREfest20 event, to understand their challenges, both the significant and the everyday ones that could benefit from innovative ideas to help make the lives of those living with rare diseases more manageable. This year, we listened and acted on those insights. Having identified three key areas in 1 in 17 people is affected by a rare disease at some point in 1 their lifetime which we believed that the innovation community could help make a difference, we issued the following challenges to the community: l How might we use digital technology or AI to improve access and availability of clear, reliable health information about rare diseases for patients, family members, healthcare professionals and/or members of the public? l How might we use AI and digital technology to improve coordination of care for people living with rare diseases? l How might we use digital technology to maintain wellbeing and reduce mental fatigue for people living with rare diseases? CRDN The population of those living with a rare disease in the UK is around 3.5 million, but with only a few affected by each of the estimated 8,000 rare conditions, challenges abound Seventeen groups responded to the challenges. These were evaluated by an expert panel and the five highest scoring entries were invited to present their ideas to an audience of more than 300 patients, healthcare professionals, academics and leaders within the rare disease space at RAREsummit21. It was a unique opportunity for innovators to get feedback on their ideas directly from people living or caring for those with rare diseases. The five featured innovations were: l Asclepius Digital by Sundown Solutions an app enabling secure and immediate access to pertinent health care records for specialist consultants l Medwise.ai using AI to provide healthcare professionals with instant access to vetted and contextualised information and peer insights about the treatment and management of rare diseases l Noink a real-world data capturing tool for rare disease families to diarise their condition(s) for the benefit of themselves and their clinical teams l Thriving AI Limited using AI to integrate the formal and informal health and social care around the person being cared for l Collaborative decision making by Vitaly a collaboration tool supporting multidisciplinary team meetings of healthcare professionals with a complete and up-to-date picture of a patients data. You can watch the recording of the session at RAREsummit21 here Each innovation that made a submission received support from Eastern AHSNs healthcare innovation experts, but, on the day, the RAREsummit audience selected Medwise.ai as the solution that best met one or more of the challenges. Reflecting after the event, Dr Louise Jopling, Commercial Director at Eastern AHSN, said We were blown away by the quantity and quality of the entries we received and narrowing it down to five was difficult. Through this innovation challenge we created connections that can improve the lives of the millions of people living with or supporting someone with a rare disease. Eastern AHSN helped us develop our own expertise by bringing its expertise to our projects. This meant we could scale CRDNs impact to help more people and more families Since the RAREsummit, we have worked with Eastern AHSN to continue to support the innovators selected. This has included connecting Thriving AI with families living with rare diseases to provide valuable feedback on how the innovation could enable the integration of their formal and informal care. Medwise.ai has been introduced by Eastern AHSN to organisations including the NHS Genomic Medicines Service Alliance for potential collaborations. Additionally, Eastern AHSN has enabled us to convene a partnership with Rare Disease Research Partners to support activities arising from their recently published Consensus Statement for Good Practice Psychological Support at Diagnosis of a Rare Disease. Eastern AHSN helped us develop our own expertise by bringing their expertise to our projects. This meant we could scale CRDNs impact to help more people and more families. We are looking forward to evolving our partnership over the next 12 months to make an impact against our shared goal to improve the lives of people living with rare diseases in our region and beyond, and to showcase our progress at RAREfest22. Update: Rare disease education for nurses In order for patients with rare diseases to get the best care, it is essential that clinicians and practitioners have access to reliable, up-to-date educational resources. In 2020, Eastern AHSN supported the development of an accredited educational platform for nurses working in lysosomal storage disorders (LSD). Our collaboration with Elizabeth Morris, a Clinical Nurse Specialist in the region, on behalf of a national nurse steering committee, and the ABPI helped make this vision possible. We brokered discussions between the steering committee and commercial partners, which Share this article Return to the contents page secured funding from four companies to enable development of the platform and led the process of appointing a medical communications agency to create the content. Now, in the first quarter of 2022, the platform is gearing up for Beta testing and is scheduled for launch at the British Inherited Metabolic Disease Group (BIMDG) conference in June. The platform will be hosted on the BIMDG website and is in the process of securing accreditation with the Royal College of Nursing (RCN). Elizabeth Morris, Clinical Nurse Specialist at Cambridge University Hospitals NHS Foundation Trust: Its really exciting that we are so close to launching the platform, driven by a need for accessible, digestible and accredited resources. The team at Eastern AHSN has been pivotal in helping us get to this point; making introductions and helping us find the right partners to give healthcare professionals the tools to help people with rare diseases. More information If you would like to learn more about Eastern AHSNs work with rare diseases and the rare disease community, contact Dr Louise Jopling, Commercial Director at Eastern AHSN, at [email protected] You can read more about the rare diseases innovation challenge here. If you have an innovation that could have a positive impact on patients, we want to hear from you. Up next: Read how we are convening partners to facilitate the storage, transfer, use and security of health and care information for research References 1 Department of Health and Social Care - UK. (2021). The UK Rare Disease Framework. Available: https://assets.publishing.service.gov.uk/government/uploads/system/ uploads/attachment_data/file/950651/the-UK-rare-diseases-framework.pdf. Last accessed 09/02/2021.