Findacure is a UK charity, and we are increasingly working to bring our events to people all around the United Kingdom. Our networking events, which we have now named showcases, are ideal for this. They act as a great place for patient groups to meet one another, as well as to form contacts with researchers, medics, and people in industry. Holding these events around the UK helps to ensure that the rare disease community local to our events is strengthened, and provides a great way to showcase some of the exceptional work being carried out in rare disease world.
Findacure’s fourth networking event, The Cardiff Rare Disease Showcase, was held on Thursday 4th May at the Life Sciences Hub Wales, with the generous support of our sponsor, Horizon Pharma. The event was well attended by 35 delegates, seven of whom presented talks throughout the evening.
Our new CEO, Dr Rick Thompson, opened the evening. He presented an overview of Findacure’s work, highlighting our patient empowerment and awareness projects, our drug repurposing programme and the Drug Repurposing Social Impact Bond. Rick also spoke about the Rare Repurposing Open Call, a collaborative initiative with Healx and Cures Within Reach, which is searching for drug repurposing clinical trial ideas that could benefit rare disease patients.
You can view Rick’s talk here.
Up next was Dr Sam Chawner, a Research Associate at the IMAGINE ID study – a joint project between Cardiff University, Cambridge University and UCL. Sam provided an introduction to the study, which aims to understand the link between rare genetic conditions and behaviour in children, and how parents can be partners in research. He highlighted the challenge of unknown mental health risks for those with genetic disorders and stressed that parents are the experts about their child’s condition, daily life and mental wellbeing.
You can view Sam’s talk here.
Following this, Diana Perry, Chief Executive at the Ectodermal Dysplasia Society, gave the first of the evening’s two case study talks. Diana focused her talk on the EDI200 treatment therapy being trialled on new-borns at the University Hospital of Wales, Cardiff. An early trial, which proved safe, unfortunately had only a small impact on patients; however, a clinician in Germany was able to give the drug to a developing baby in the mother’s womb. This proved far more successful in addressing the developmental symptoms of EDS. The EDS society are now seeking funding to produce a new batch of the expired drug to deliver a full clinical trial of this compound in developing foetuses.
Our next speaker was Dr Madhu Madhusudhan, Senior Business Manager at MRC Technology. Madhu gave an overview of MRC Technology, a charity that spun out of the Medical Research Council, and highlighted the mechanisms they have created to advance research outcomes through collaboration and partnerships. They have helped to form the Dementia Consortium, bringing a number of disparate stakeholders together in order to take basic research to the clinic. They have also helped groups such as Emily’s Entourage and the PTEN Foundation with their research plans.
You can view Madhu’s talk here.
Alan Thomas, Founder of Atacsia a Fi/Ataxia & Me spoke next. Alan shared his experience of having a rare disease and crossing physical, geographical and psychological borders. Alan spoke about the effects of Ataxia on his coordination, balance and speech and how these symptoms change public perceptions of both himself, and others with rare diseases. An early supporter of Findacure, Alan also described his experience on our 2015 peer mentoring programme and the establishment of his own patient group in Wales.
You can view Alan’s talk here.
The second of the evening’s case study talks was presented by Prof. Julian Sampson, Director of the Division of Cancer & Genetics at Cardiff University. Julian spoke about the research surrounding Tuberous Sclerosis and how they’ve progressed from a gene to licensed treatment by repurposing an existing compound. He highlighted the importance of patient group collaboration in the journey, and the continuing research effort to address more of the symptoms of the condition.
You can view Julian’s talk here.
The final talk came from Nikie Jervis, Patient Support Manager at the NET Patient Foundation. Nikie described the different types of Neuroendocrine Tumours and how difficult it is to get a timely and correct diagnosis. The NET Patient Foundation was formed by patients who met in waiting rooms – talking together, exchanging numbers and expressing their concerns over the lack of awareness. This group was able to secure commissioning for a new NETs specialist service in Cardiff – a huge achievement.
You can view Nikie’s talk here.
The event was rounded off by Flóra Raffai, giving her final closing remarks, at her final event as Findacure’s Executive Director. A sad moment, but a nice way for her to bow out of her public Findacure life. We all had a fantastic time in Wales, and want to thank everyone who attended the event. We hope it will help to form some new and exciting projects in the Cardiff area, where there is already some exceptional rare disease work being delivered.
We would like to say thank you to our sponsor Horizon Pharma for providing financial support to cover the costs of this event. This event was solely organised by Findacure and our sponsor did not determine the content.