The Cambridge Rare Disease Showcase 2019
Thanks to the generous support of our sponsors, on Thursday 8th August we hired out Espresso Library and welcomed 60 delegates from the across the rare disease community. This was the first time we have ever sold out an event, and we were delighted to see such a strong interest in this event across every facet of the rare disease community. Alongside a delicious selection of canapes and refreshments, we also heard from six of our delegates who bravely took on the infamous Findacure bell for our five-minute lightning talk challenge.
Programme and summaries
Sofie Ashford: Operations Lead, NIHR BioResourse, University of Cambridge
Sofie Ashford is the Operations Lead at NIHR BioResource which is part of the University of Cambridge. The BioResource recruits participants both with and without health conditions, including a large cohort with rare diseases, with the aim to recall participants for experimental medical studies and clinical trials. Sofie opened her presentation with a discussion of the ‘rare disease arm’ of the BioResource, which has been able to whole genome sequence 13,000 patients with rare diseases. 20% of these people were given a diagnosis, but Sofie suggests that ‘there is still a long way to go’. ‘It is extremely important to be able t look in and be able to understand the mechanisms of these rare diseases’, says Sofie, referring to the 1 in 17 of us who will be diagnosed with a rare disease during our lifetime. The BioResource recruits nationwide across 55 centres for rare diseases in order to get enough patients on-board with specific rare diseases. This ensures that it is ‘attractive for researchers to want to do research on’. They are now working with Genetic Alliance to incorporate patient-led groups into their studies. The aim of the BioResource is ‘to facilitate future research’ for rare diseases.
Katy Baker: Vice President of Welfare, Northampton Students’ Union
Dr Steve Webster: Lecturer in Innate Immunity, University of Cambridge
Dr Tony Hall: Chief Medical Officer, Aparito
Stephen Jones: Chair, Action for Pulmonary Fibrosis
Dr Valeria Nicoli-Carr: Global Director of Patient Services, Patient Primary
If you would like to take Findacure’s five-minute challenge and share your rare disease story your next opportunity will be at the Manchester Rare Disease Showcase on the 10th of October. Registration is open now, with lightning talk slots up for grabs until mid-September. Why not find out more?