The Virtual Rare Disease Showcase is our most successful event yet!

Findacure’s Rare Disease Showcase series celebrates the innovative rare disease projects taking place across the UK. Collaboration is key to moving rare disease progress forward, so our Showcase series introduces rare disease stakeholders to each other and invites them to share their experiences, work, research and expertise with the wider community.

By sharing and combining the rare community’s skills, we are building an unstoppable community that can bring real change to those living with rare disease.

To date, we have hosted eight Rare Disease Showcases in the following prominent UK cities:

Manchester
Glasgow
Newcastle
Cardiff
Birmingham (The Midlands)

Cambridge: 2017, 2018, 2019

The Virtual Rare Disease Showcase

Findacure’s Rare Disease Showcase is a staple within the rare community. With the world transformed by a global pandemic, we were quickly left with no choice but to alter and adapt our event for 2020. After months of hard work, preparation and planning, we successfully took our event entirely online and brought the rare disease community the first-ever Virtual Rare Disease Showcase via the digital Swapcard platform! Although the format may have changed, The Virtual Rare Disease Showcase remained an event for everyone.

The Virtual Rare Disease Showcase was free for all to attend, whether one registered as a patient, patient group representative, clinician, student, researcher, industry member or pharmaceutical representative. The Findacure team worked tirelessly to compile a diverse programme that excited, challenged and inspired every rare disease stakeholder. We purposely chose themes and topics that spoke to the newfound importance of the digital world, and discussed the rare community’s many successes and challenges throughout the global pandemic.

The Showcase explored how technology can accelerate rare disease research and improve access to treatment and highlighted the projects, innovations and experiences currently driving rare disease care forward. Over the course of three rigorous days, we held a series of interactive sessions featuring roundtables, panels and lightning talks. Over 50 speakers took to our virtual stage and discussed themes around COVID-19, telemedicine, diagnostics and drug development, online communities, real world evidence and the clinical trial landscape.

By hosting our showcase online, many more rare disease advocates were able to access the event and join in the conversation. We welcomed over 350 rare disease advocates and heard from a variety of rare disease experts across 20+ interactive sessions. Attendees especially enjoyed the Bringing clinicians into the rare disease space, A technological revolution: transforming diagnostics and drug development, and Shifting the paradigm: the value of Real World Evidence in rare disease sessions. Thanks to all of our motivated participants, The Virtual Rare Disease Showcase was unquestionably our most successful event to date!

Weren’t able to attend The Virtual Rare Disease Showcase?

You can watch our Main Stage and Breakout Session recordings on-demand below or on our YouTube channel!

With thanks to

Headline sponsor

Corporate partner

Session sponsor

Session sponsor

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Supported by

Our sponsors provided financial support for this event. This event was solely organised by Findacure and our sponsors did not determine the content. All funds received from pharmaceutical companies were used in accordance with the ABPI code. Please note, sponsorship does not equate to endorsement of products or services.

Watch on-demand!

The following recordings have been approved to be shown by the session’s speakers on our website and YouTube channel. 

Main Stage

An unprecedented challenge: the impact of Covid-19 on rare diseases

COVID-19 has forced everyone in the rare disease world to think and work in new and innovative ways, and has created profound challenges for patients and carers to overcome. Within this theme you will hear:

  • A first-hand experience of catching COVID-19 with a rare disease
  • The impact of COVID-19 on the rare community and the changes that are happening
  • The role of drug repurposing in treating COVID-19 and rare diseases

Speakers: Lara Bloom (CEO, The Ehlers Danlos Society), Jo Balfour (Managing Director, Cambridge Rare Disease Network), Lucy McKay (CEO, Medics4RareDiseases), Rebecca Stewart (CEO, Rare Revolution Magazine) and Catriona Crombie (Associate Director: Technology Transfer and Philanthropic Fund Manager, Life Arc)

A technological revolution: transforming diagnostics and drug development

Technology is helping us identify rare diseases, diagnose patients, and find new treatments. New approaches in artificial intelligence and data analysis are helping us breakdown the roadblocks rare disease patients face. Within this theme you’ll hear:
  • How artificial intelligence is helping find new uses for old drugs
  • How ‘omic approaches and natural language processing are revolutionising diagnosis
  • The role of patient-driven international registries in accelerating rare disease research

Speakers: Justin Grace (Machine Learning Engineer, Healx), Shirlene Badger (Head of Patient Advocacy, Illumina), Rudy Benfredj (CEO, Mendelian), Conan Donnelly (Registry Manager, INPDR)

Shifting the paradigm: the value of Real World Evidence in rare disease

Real world data is increasingly seen as a vital tool to address the challenge of understanding the impact of rare diseases on patients and the benefit of treatment. Within this theme you’ll hear:

  • The importance of collaborating with patients when developing apps and wearables for real world data collection
  • The role of real world evidence in access to future treatments
  • How a new wearable device for a rare condition could benefit all epilepsy patients

Speakers: Naomi Litchfield (Patient Advoacy Manager, Bionical Emas), Elin Haf Davies (CEO, Aparito), Daniel Lewi (Head of Business Development,  Aparito),  Allison Watson (Founder, Ring20), Tim Buckinx (CEO, EpiHunter)

 

Telemedicine and remote care: a new reality?

Telemedicine and digital health have provided the only route to care for millions of rare disease patients throughout the pandemic. Hear how specialist services, including mental health providers, have developed to include this technology, and the benefits and challenges it has presented. Within this theme you will hear:
  • How an NHS specialist service has developed to include this technology, as well as the impact it’s had on patients and clinicians
  • The experience of home-based care and treatment delivery with a rare condition
  • The development of digital solutions to provide support for mental health

Speakers: Prof. Tim Barrett (Honorary Consultant Paediatric Endocrinology and Diabetes, Birmingham Children’s Hospital), Kerry Leeson-Beevers (National Development Manager, Alstrom Syndrome UK), Maddie Collin (Project Coordinator, Gauchers UK), Richard Andrews (CEO, Healios)

Going digital: opportunities to build and engage new communities

 As the world has gone online during lockdown, so have rare communities and communications. Online communities have
never been so important for connecting the rare community, increasing accessibility and sharing ideas. Within in this theme you’ll hear:

  • How an online rare disease youth community is making an impact
  • Details of a platform designed to educate medical students about rare diseases
  • How to start a patient community in the midst of a global pandemic

Speakers: Daisy Marriott (Communications Assistant, Rare Revolution Magazine), Georgia Hart (Youth Ambassador, Rare Youth Revolution), Lucy McKay (CEO, Medics4RareDiseases), Joanne Byrne (Acting CEO, Metabolic Support UK), David Rose (Business Development Manager, Rare Revolution), Jen Tidman (Business Manager, ERN eUROGEN), Rachel Jones (Medical Director, Sw.iich Health), Sam Fillingham (Trustee, PIP UK)

Re-envisioning the clinical trial landscape post Covid-19

COVID-19 has had a profound impact on clinical research, halting many studies in their tracks. The trials of the future need to
adapt to prevent such dramatic halts. Within this theme you’ll hear:
  • How home care, self-reporting, and technological solutions can all help shape future trials, and make them more accessible
  • The impact of COVID-19 on clinical research and where success has been seen
  • Firsthand experiences of patient groups and clinicans who have kept research moving

Speakers: Christa van Kan (Founder, PSR Orphan Experts & former Strategic Director of Rare Diseases, ERGOMED), Lara Bloom (CEO, The Ehlers Danlos Society), Dr. Penny Hogarth (University of Colorado School of Medicine)

Breakout Sessions

Building patient communities in an isolated world

COVID-19 has affected the rare disease community in a myriad of ways, and patient groups have had to find new and innovative ways of keeping connected with their members.

In this session, hear from five patient groups leaders as they discuss how they’ve naviagated these new waters and share some top tips for keeping engaged with rare disease patients.

Speakers: Rick Thompson  (CEO, Findacure), Tracy Lynch (Founder, Wolfram Syndrome UK), Joanne Taylor  (Acting CEO, Metabolic Support UK), Nina Knight (Founder, Acrodysostosis Support and ResearchStacy Paddon (Yellow Brick Road Projects), Brittany Anderson (Advocate, FD Warriors)

The importance of language and comms in healthcare

Gavin Jones of OPEN Health chairs a panel discussion on the importance of language for health professionals and rare disease advocates.

Explore the challenges of communicating complex information about rare diseases that’s faced by pharmaceutical companies, clinicians and patient groups alike. Learn some tips and tricks to ensure that you’re getting your message across to patients in a clear, concise and accurate manner whether you’re communicating face-to-face, over the phone or through a leaflet!

Chaired by: Gavin Jones (Director of Rare Disease, Open Health )

Speakers: Peter Rutherford (Vifor Pharma), Gemma Allen (OPEN Health), Kerry Montgomery (Sheffield University), Liz Allen (British Skin Camouflage Association)

Creatively capturing the patient voice and experience

The importance of the patient voice has never been higher, but harnessing it, amplifying it, and effecting change remains a challenge for patient groups and companies alike. Finding new and creative ways to share the rare disease patient experience and cutting through the noise to highlight the unmet need within our community is a constant struggle.

Same But Different have been at the forefront of some of the most creative approaches to telling patient stories in the UK rare disease community. This round table discusses:

  • The ways you can reach a wider audience with your stories and experiences
  • How to maintain an authentic patient voice, and to use stories for the benefit of the story-teller first and foremost
  • Successful industry led awareness campaigns
  • What successful engagement looks like for a patient association

Hosted by Ceridwen Hughes (Art Director, Same But Different)

The patient experience of access challenges

Delivering access to new rare disease medicines can be one of the biggest challenges in the development pathway. With the high price of the average orphan drug, access and reimbursement decisions can take years, and patients may be left in limbo, or find themselves with the burden of data collection in a managed access scenario.

In this panel, Bionical’s Naomi Litchfield talks to three people affected by rare conditions with very different experiences of these access challenges: a complete absence of treatment with no sign on the horizon; a young patient whose extraordinary enrolment in an Early Access Programme has had a huge impact on her life and condition; and a mother of two young children receiving monthly treatments through a managed access agreement.

Hosted by Naomi Litchfield (Patient Advocacy Manager, Bionical Emas)

Lightning round #3 : can our speakers beat the bell?

In the final of our three lightning rounds, our delegates take on the infamous five-minute challenge. Can they beat the bell?

Speakers: Adam Lawrence (Chair, HSP Support Group), Ashley Clarke (Youth Events and Fundraising Manager, Huntingtons Disease Association NI), Connor Webb (Advoacte, HYMS), Joanne Lee (ACT and Education Coordinator, Newcastle University), Kimberley Steele (Director of Patient-led Research, LGDA)

Making the most of networking opportunities in a digital world

Dedicated networking can feel intimidating at the best of times, but how should you approach it in the virtual world? What are the tips and tricks to build the connections you need online, and how should you approach people in a virtual space.

Hear the thoughts of Tarquin Bennet-Coles, a senior executive search consultant with George James ltd, on networking in the virtual world, and get tips direct from the community.

Hosted by Tarquin Bennet-Coles (Senior executive search consultant, George James ltd)

Lightning round #1 : can our speakers beat the bell?

Back with popular demand: the lightning talk round!

In the first of our three lightning rounds, our delegates take on the infamous five-minute challenge. Can they beat the bell?

Please note:  This video is currently awaiting captions and should be updated shortly. Thank you!

Speakers: Cara Westmark (Assistant Professor, University of Wisconsin)Jay Roche (Head Human, HD-Ready), Jonathan Morton (Agency Lead, Comradis), Kristie DeMarco (President, Global DARE Foundation) Dimitra Kiritsi  (Consultant Dermatologist, Department of Dermatology; Medical Center, University of Freiburg)

Harnessing the voice of youth in rare disease advocacy

There are a number of different initiatives designed to amplify the youth voice in rare diseases; helping them to take control of their care, engage with the community and become better advocates for their condition. Watch now to engage with these initiatives and to learn what can be achieved in the youth space.

Chaired by: Laurence Woollard (Director, On The Pulse Consultancy) and Sally Hatton (Trustee, XLH UK)

Speakers: Daisy Marriott and Georgia Hart (Rare Youth Revolution), Ed Moss (runs http://www.bridgingthegap.tips/) and Dan Moxon (People, Dialogue and Change)

The value of patient input in creating digital endpoints

Having the right end point for your clinical trial is crucial to give you the best chance of success. These endpoints can only be developed with a detailed understanding of both disease progression and a true understanding of the patient experience of day-to-day life with the target condition.

This roundtable discussion focuses on endpoint development, highlighting the impact that good and bad endpoints can have on a clinical trial. It examines Aparito’s recently launched scheme to partner with patient groups to help in the development of new, clinically relevant endpoints.

Hosted by Daniel Lewi (Business Development Manager, Aparito) and Elin Haf Davies (CEO, Aparito)

Rare disease clinical trials post Covid-19: how do we respond?

What is the future for the rare disease clinical trial? How can clinical trialists respond to the challenge that COVID-19 has imposed on all of us, while still finding a way to increase patient participation and engagement in vital clinical research? How will we address the challenges of generating the evidence needed for the ultra-rare genetic conditions that new diagnostic techniques are increasingly helping us to uncover? See how our panel tackle these big questions and more!

Chaired by: Rick Thompson (CEO, Findacure)

Speakers: Dr Melita Irving (Clinical Geneticist, Guys and St Thomas’ NHS Trust), Tony Hall (Co-founder, Findacure & Chief Medical Officer, Healx), Christa Van Kan (Founder, PSR Orphan Experts

Genomics 101: workshop

Around 80% of all rare conditions have a genetic basis. Genonic technology is revolutionising our understanding of such conditions, and helping more genetic conditions to be identified each day.

However, for many of us, grasping the basics of genetic science is a challenge, making diagnosis unbelievably complex, and leaving a full understanding of our condition and avenues to treatment or care harder to identify.

In this session, Gemma Chandratillake provides a brief introduction to the basics of genomic science to help us all tell our genomes from our transcriptomes.

Hosted by Gemma Chandratillake (Course Director, Genomic Medicine Programme, University of Cambridge)

Engaging diverse communities with your rare disease

It is easy when setting up a patient support group, or charity for a rare disease, to think that those affected are so few and far between, that all will feel a connection to your organisation. Of course, in truth this is not always the case. The way we think, see challenges, or identify problems will all be a product of our background and may not appeal to your whole patient community.

While COVID-19 has dominated our collective conscious in 2020, issues of race and inclusivity have never been far behind. In this session, we discuss the challenges of engaging a diverse community of stakeholders and hear about the work being done to help rare disease patient groups represent patients of different races, religions, and backgrounds.

Please note:  This video is currently awaiting captions and should be updated shortly. Thank you!

Hosted by Asya Choudry (Community Engagement Manager, Breaking Down Barriers) and Kerry Leeson Beevers (Project Lead, Breaking Down Barriers)

Projects

The Virtual Rare Disease Showcase

by Blayne Baker time to read: 21 min
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