Our ‘Rare Disease Showcase’ series is a celebration of rare disease projects around the UK
The UK is widely recognised as a world leader in research, medical innovation and treatment development, and as such has many examples of excellent practice in rare diseases. Yet, for rare disease patients, securing support for their condition is still an uphill battle. Information and knowledge about rare diseases is lacking, access to experts is limited, and medical research is slow, or non-existent.
Given these barriers, we know that collaboration between stakeholders is crucial for progress in the rare disease sector, and introducing them to each other is the first step. Our showcase series tours cities around the UK, providing a platform for local patient groups, researchers, life science professionals, and clinicians to share their experiences, progress, and developments in rare diseases.
By connecting these regional interest groups, each with their own unique expertise and skills, we are building an unstoppable rare disease community which can drive forward research and transform the lives of those living with rare diseases.
Don’t just take our word for it. Meet our community.
What happens at our rare disease showcases?
We host two to three showcases each year, which vary between day-long conferences and shorter networking evenings, in UK cities at the forefront of rare disease developments. Each showcase has a regional spotlight, focusing on the efforts of local rare disease communities and emphasising the personal stories, medical advancements and research of those in the surrounding area.
All showcases include a lightning talk session, providing an opportunity for delegates to propose their own five-minute talk, while our day-long events also include a selection of longer invited presentations from expert speakers in the region. We record all presentations and release these freely on our YouTube channel to allow those who are unable to attend to benefit from the information being shared.
To encourage open and honest conversation between delegates, we maintain an informal atmosphere, allowing a friendly forum where all members of the rare disease community can meet, discuss topics and form long-lasting relationships.
In 2016, Elizabeth Allen from the British Association of Skin Camouflage, presented a lightning talk at our Midlands Rare Disease Showcase on the importance of medical professionals communicating clearly to patients. Through a series of amusing and thought provoking examples, Elizabeth highlighted the confusion and complications caused by using medical jargon, and stressed the need for both medical professionals and support groups to convey information in an obvious and straightforward way.
To watch Elizabeth’s lightning talk, head to our Midlands Rare Disease Showcase page.
At our Newcastle Showcase in 2017, Biomarin’s Nigel Nicholls shared their involvement in the negotiation of the first managed access agreement in the UK – a model that allows patients to access a drug for their condition on the NHS, on the basis that they undergo careful and regular monitoring. Nigel highlighted both Biomarin’s and the patient group’s role in securing this landmark deal, and ultimately a treatment for their patient community.
To watch Nigel’s lightning talk, head to our Newcastle Rare Disease Showcase page.
We were also joined in Newcastle by Brian Cullen, a patient with Hereditary Haemorrhagic Telangiectasia (HTT). HTT is a hereditary condition which causes abnormal blood vessels and frequent and excessive nose bleeds. Brian shared his diagnostic journey, and the effect his unpredictable condition has on his life. Due to continuous blood loss, patients with HTT have low levels of iron and have to routinely receive blood transfusions, an experience Brian compared to filling a car up with petrol. Brian emphasised his desire to raise awareness of his condition in the hopes that one day they will find a cure.
To watch Brian’s lightning talk, head to our Newcastle Rare Disease Showcase page.
How do I get involved?
Anyone with an interest in rare diseases is welcome to attend our showcases and we are always on the lookout for speakers, sponsors and future destinations. If you would like to get involved, please contact our Events Manager, Mary Rose Roberts, at [email protected].