Cambridge Rare Disease Network to host ‘pioneering’ RAREsummit21

Published by Cambridge Independent

Published In 2021

Cambridge Rare Disease Network to host ‘pioneering’ RAREsummit21

Five innovators selected to pitch their rare disease challenge solutions to RAREsummit21’s audience have been selected by judges.

Cambridge Rare Disease Network is both hugely respected and hugely popular
Cambridge Rare Disease Network is both hugely respected and hugely popular

The Dragon’s Den-style innovation pitching is one of many components of RAREsummit, which takes place virtually tomorrow (October 7) and is hosted by Cambridge Rare Disease Network (CamRARE).

The annual event, first held in 2015, shines a bright light on life for rare disease sufferers, shares a vision of how to accelerate improved treatments and outcomes for them, and offers information about causes, diagnoses and possible patient pathways now and in future.

The need is urgent: there are more than 7,000 rare diseases globally, and around 3.5 million Britons are rare disease sufferers – yet only five per cent of rare diseases have an approved treatment.

This year, RAREsummit will be held online for the first time, making it more accessible than ever to a global audience and to patient groups, researchers, clinicians, pharma and biotech companies and policy-makers from around the world. More than 50 key opinion leaders will take part in panel discussions, fireside chats, workshops and live pitching sessions, alongside over 20 interactive exhibition stands, short films and posters in an inspirational online gallery. More than 300 people are expected to attend.

RAREsummit is more than an event – it’s where the magic happens,” said CamRARE’s managing director Jo Balfour. “It’s a powerful movement for change that provides all the right ingredients for a better future, where productive collaborations are nurtured and flourish for real patient impact.

“Patients want to be involved and share their lived experiences to help companies, researchers and healthcare professionals find answers and solutions,” she added.

Jo Balfour, managing director of Cambridge Rare Disease Network. Picture: Keith Heppell
Jo Balfour, managing director of Cambridge Rare Disease Network. Picture: Keith Heppell

“RAREsummit21 will shine a spotlight on those patients, patient advocacy groups, researchers, healthcare professionals, and companies who are truly listening and leading the way in pioneering partnerships to accelerate change.”

The pitching event, created in partnership with Eastern AHSN, was judged by Louise Jopling, Charles Steward, Sean Richardson, Alastair Kent, Sophie Muir, and Gemma Chandratillake.

The audience will hear from the following five shortlisted organisations about their solutions live, with follow-up questions from CamRARE’s resident dragons.

  • Asclepius Digital: a paediatric rare disease diagnostic portal from Sundown Solutions
  • provides healthcare professionals with vetted and contextualised knowledge about the treatment and management of rare diseases
  • NOink by DSST Real world: data capture and information for rare disease patients and their families to improve care
  • tool integrates health and social care, formal and informal care around a thriver, the person being cared for, and is underpinned by machine learning and AI capabilities
  • Vitaly Collaborative decision making – a cutting-edge tool from Parsek Group for healthcare professionals enhancing how multidisciplinary teams exchange opinions, make decisions and manage patients remotely.
Professor Stephen Hawking shared his own personal story at the inaugural RAREsummit in 2015. Picture: Sir Cam
Professor Stephen Hawking shared his own personal story at the inaugural RAREsummit in 2015. Picture: Sir Cam

From the outset five years ago, CamRARE has provided a platform for an impressive collection of hard-hitting speakers from Cambridge, alongside European and US experts. The late and very great Professor Stephen Hawking – Cambridge’s best-known rare disease advocate – shared his own personal story at the inaugural RAREsummit in 2015 at Cambridge Judge Business School.

Professor Hawking was famously diagnosed with the rare motor neurone disease at 21, and was told science had no answers. He went on to live a long and productive life with the support of medical and technological advances. Cambridge Rare Disease summits continue to drill down into how to make this a reality for the 3.5 million Britons affected by rare disease – at a time when life just got even harder, thanks to Covid-19.

“Life has been turned upside down for many of us over the last year, but none more so than the rare disease community,” says Jo. “Our families have been impacted by the added isolation of having to shield their medically vulnerable children, access to routine healthcare became more challenging, diagnoses of rare conditions were delayed, and many clinical trials and research studies were put on hold temporarily. Some closed altogether.”

However, she says the response has been hugely life-affirming.

A rare disease sufferer. Picture: Jordan Mossom
A rare disease sufferer. Picture: Jordan Mossom

“We came together, albeit virtually, as a community with greater determination than ever before. We have begun to take the positives from the last year too and work out where things can be done better in the future. Can the length of clinical trials for rare diseases be shortened through parallel working as we saw with Covid vaccines? Should telemedicine in healthcare be a permanent option for some patients who currently have to travel to see experts across the country? Could digital signatures and virtual site visits be used to allow patients to give consent to take part in trials and connect with researchers?

“It’s vital we take the learnings of the last year and get back on track for this massively underserved population.”

As well as the Eastern AHSN highlight, Jo points to the Medicines Discovery fireside chat at 3.25-3.50pm as another possible high point: AstraZeneca recently bought rare disease therapeutics company Alexion, and “they’ll both be taking part in a session to tell us what they plan to do next,” Jo says.

“Tim Ringrose at 9.40am should be interesting too – he’s a doctor and a tech expert and is using some very cool ways of helping create accessible health info about rare diseases – something that is hugely lacking!”

More about this remarkable event can be found here.