RAREsummit25 Programme
Talks, panel discussions, Q&A, fireside chats, breakout sessions, live pitching, networking
Meet the speakers
| Time | Topic | Session description | Speakers |
|---|---|---|---|
| 08:30 – 09:10 | Registration and networking | Familiarise yourself with the venue, visit exhibition stands, view posters, enjoy a coffee and mingle. | |
| 09:10 – 09:20 | Ten Moments | Celebrating 10 Years of CamRARE – opening keynote sharing 10 moments of impact | Jo Balfour, Managing Director, CamRARE |
| 09:20 – 10:00 | The RAREsummit Legacy in Action: How past RAREsummit ideas & connections sparked real-world change | Since 2015, RAREsummit has brought together changemakers from across the rare disease ecosystem – hear how past RAREsummit ideas and connections grew into real-world change in research, policy, and innovation. | Sam Barrell, LifeArc; Andy Kulina, Phelan Mcdermid Syndrome; Allison Watson, Ring20 Research & Support UK CIO; Shirlene Badger, Illumina; Emma Davies, Healx; Laura Hattersley, CASK Foundation. |
| 10:00 – 10:35 | RDRN Showcase: Patient-Led Research and Innovation | See rare disease research turned on its head! Following the 2024 launch of the Rare Disease Research Network, discover inspiring patient-driven projects pitched live today, and find out how you can help shape the future of research and care. | Chair: Tatty Scott, RDRN; Laura Cowley, Patient-Led Research Hub; Jo Balfour, CamRARE; Sarah Dearman, Children's Hyperinsulinism Charity; Scott Hutchings, CHAMP1 UK; Matthew Baker, Hypersomnolence UK |
| 10:35 - 11:00 | Breathing Life into Existing Technology - Patient-Led Innovation in Rare Diseases | Think patient-led research is too risky or difficult? This session reveals how collaboration across patients, clinicians, and engineers worldwide is transforming treatment for a rare, life-threatening breathing disorder. | James Oakley, Keep Me Breathing; Duncan Foster Fitzsimons - Director, 7TH Design & Invention |
| 11:00 – 11:35 | Networking Break | Browse the exhibition stands and posters. Grab a coffee and mingle. | See exhibitors and posters in the main RAREsummit25 menu |
| 11:35 - 11:55 | Making Rare Disease Visible Globally | Exploring Rare Diseases Through the Lens of Human Rights The RDI-Lancet commission on Rare Disease | Dr Lucy McKay, Medics for Rare Disease. |
| 11:55 - 12:45 | PARALLEL SESSIONS | ||
| 11:55 - 12:45 | Digital Twins in Rare Disease | Explore the potential of digital twins — virtual simulations of patients — to transform rare disease research, care, and innovation. This session invites discussion on how technology could predict outcomes, test treatments, and improve patient journeys, while examining opportunities, challenges, and ethical considerations | Dr Crina Samarghitean, CSAI4Health; Ellen McDonagh & Evangelina Petsalaki, European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI) |
| 11:55 - 12:45 | Communicating our Rare Conditions: Patient Passports for Rare Journeys | This session highlights how patient health and care passports are proving to be powerful tools for clearly and effectively communicating information about rare conditions. Attendees will hear from CamRARE’s Rare Patient Passport creators and users, alongside patient groups, healthcare providers, and digital platform partners, about how the passport is supporting patients across healthcare, social care, educational settings, and everyday life. | Jo Balfour, CamRARE; Demetra Georgiou, BSGM & Imperial College Healthcare NHS Trust; Scott Mardon, MyMedicalSupport; Karen Whitehead, PAO |
| 11:55 - 12:45 | Equal Rights for Rare Lives | This light-hearted but informative 'pub quiz' is based on the work of the Lancet Commission on Rare Diseases. The different rounds are designed to provoke discussion and exchange knowledge, all while having some minimally-competitive fun! Join us to find out how much you know about basic Human Rights law and to get up to speed on recent global Rare Disease policy. | Dr Lucy McKay and Megan Pullein, Medics for Rare Disease. |
| 12:45 – 14:00 | Lunch | Browse the exhibition stands and posters. Grab some food and mingle. | See exhibitors and posters below. |
| 14:00 – 14:30 | Navigating Mental Wellbeing with a Rare Disease | Hear from people living with a rare condition, carers, and experts on the challenges, strategies and insights for supporting mental health while living with a rare condition | Chair: Loretta MacInnes, CamRARE; Max Fisher, PLWRD; Kelley Kearley, PTENUKI; Tom Staniford, PLWRD. |
| 14:30 – 15:10 | Rare Perspectives: Parents Balancing Career, Family & Rare Disease Advocacy | Hear from rare people and parents who are using their careers in genetics, research, education, and policy to influence better outcomes for people living with rare disease — all while balancing advocacy and family life. | Stacey McGeown, Queens University Belfast; Will Harrison, Cambridge Cognition; Alexandra Martin-Geary, University of Oxford; Gavin Thomas Hepherd-Hall, Rare4Schools. |
| 15:10 - 15:45 | PARALLEL SESSIONS | ||
| 15:10 – 15:45 | Networking Break | Browse the exhibition stands and posters. Grab a coffee and mingle. | See exhibitors and posters tabs in the main RAREsummit menu |
| 15:45 - 16:30 | Generating Evidence to Support Access to RD Medicines. Creating The Toolkit | Join this interactive workshop to explore the challenges patient advocates face in generating evidence and collaborate on ideas for an ideal toolkit to drive evidence-based advocacy. | Eleanor Thurtle, Costello Medical. |
| 15:45 - 16:30 | Naming Rare Genetic Diseases | A workshop led by UNIQUE exploring the history, complexities and opportunities when naming rare genetic conditions | Sarah Wynn, UNIQUE; Nicky Whiffin, University of Oxford; Jonathan Roberts, Cambridge University; Francesca Wicks, Unique |
| 15:45 - 16:30 | Should we listen? Social listening research for mental health & rare conditions | RareMinds is exploring whether social listening can reveal new insights into the mental health challenges of rare disease. This session asks the community to weigh potential benefits against ethical concerns and consider how such research could be used | Lauren Roberts, RareMinds UK |
| 16:30 - 17:15 | The Next Decade of Rare Disease Innovation | Leading experts share breakthroughs set to shape the future of rare disease — from epigenetics for faster diagnosis, to pioneering therapies, sustainability in healthcare and unlocking the dark genome. Join this forward-looking panel to explore the discoveries that could redefine research, treatment, and care in the next ten years. | Dr Gemma Chandratillake, East Genomics; Prof Siddharth Banka, Manchester Rare Disease Centre; Deborah Richards, Alexion Astra Zeneca; Elizabeth Radford, Wellcome Genome Campus; Prof Carlo Rinaldi, University of Oxford, Nick Meade, Genetic Alliance UK. |
| 17:15 - 17:30 | Closing words: Preparing for Action | Today’s shared hope and opportunities and CamRARE Strategy Launch | Emma Green, Chair of Trustees, CamRARE. |
| 17:45 - 18:15 | Wellcome Genome Campus Tour | Enjoy a tour of the Wellcome Genome Campus led by Jack Monaghan. Numbers are limited to 30. | Jack Monaghan, Wellcome Connecting Science. |
| 18:30 - 20:30 | Networking Dinner | Celebrate 10 years of CamRARE at our 10 year anniversary dinner. | Hinxton Hall. Tickets available via Eventbrite. |