The Cambridge Rare Disease Showcase 2018

Cambridge is one of the UK’s leading cities for scientific and medical research, with a cluster of patient and advocacy groups, clinicians, life science networks and academics focused on rare diseases. It also happens to be the hometown of ourselves at Findacure. Which is why, every year, we hold one of our Rare Disease Showcases in the heart of the city.

Thanks to the generous support of our sponsor Cambridge Healthcare Research, on Thursday 16th August we hired out Baroosh and welcomed just under 40 delegates from the across the rare disease community. Alongside a delicious selection of canapes and prosecco, 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

Dr Ramesh Bulusu - Lead Clinician, UK PAWS GIST Clinic, Cambridge University Hospitals

Dr Bulusu is the lead clinician at the PAWS GIST clinic (Paediatric, Adolescent, Wild type, Syndromic, Gastro Intestinal Stromal Tumors). The clinic, which is based out of Addenbrooke’s Hospital in Cambridge, is Europe’s first clinic for rare cancers and was established in 2014. Dr Bulusu opened his presentation with an explanation of GISTs – a rare tumour of the Gastro Intestinal tract, which affects 12-15 people per million. While GISTs on their own are already rare, there are common and uncommon forms – 85% of GISTS occur in adults, with only 15% occurring in children and adolescents. Further, the mutation of GIST’s in young people is biologically different to those in adults. Thus the PAWS-GIST consortium was born, with the aim to raise awareness, centralise expertise, stimulate research and develop new treatments. The clinic has now been running for four years, and has seen over 70 patients through its doors. They have set up a GIST registry, a tumour bank for researchers, and are actively engaging pharma in order to encourage further work into rare cancers.

Robert Whitemore - Director, Roboleo & Co

After a short networking break, Robert Whitemore took to the floor to discuss market access challenges in rare diseases. Robert began by comparing the challenges in market access to a game of snakes and ladders – a complex and lengthy process, complete with successes and setbacks along the way. He stated that reimbursement is arguably the biggest barrier to access, and while schemes exist to get faster approval for drugs – such as early access – these are often not supported by Health Technology Assessors (HTA), who are hesitant to pay for it. Robert then went on to discuss three major problems in the process: (1) uncertainty over evidence, often to due small, heterogeneous patient populations, (2) cost effectiveness and how much they are willing to pay for drug, and (3) affordability – treatments for rare diseases come at a high cost, and if payment is required up front, this can have a huge impact of budgets. Finally, Robert proposed a solution, pointing out that whilst there is no “magic bullet”, there are approaches which can improve the situation – constructing early economic models, engaging with stakeholders to understand their needs, getting the insight of patient organisations and collaborating with similar, and sometimes competitive, companies.

Ramsay Bowden - Clinical Research Fellow, Steve Jackson Laboratory, Gurdon Institute, University of Cambridge

Next up, was Ramsay Bowden a Clinical Research Fellow at the University of Cambridge, who is studying the genetic causes of rare diseases. The majority of rare diseases have an underlying genetic cause, and being able to identify these genes helps to better understand the disease. Instead of studying these in isolation, Ramsay’s work is focused on interactions between genes, and how gene editing techniques, such as CRISPR-Cas9 can create new interactions in cellular models. Through careful observation and experimentation, Ramsay can assess which variations do well, with the ultimate aim of seeing whether different genetic interactions can reveal new treatment pathways for rare diseases.

Laurence Woollard - Director, On The Pulse Consultancy

Laurence is one of three brothers, who have all inherited Haemophilia A – a rare bleeding disorder where the protein which helps to make blood clot is either partly or completely missing. Those with haemophilia are prone to frequent and spontaneous episodes of bleeding, particularly around the joints which can lead to chronic joint disease. Laurence himself has been subject to this, having had his ankle orthopedically fused at 16. Together with the psychological and physical effects of recurrent bleeds, having haemophilia can completely disrupt a person’s life. Laurence established On The Pulse in 2017, to emphasise the lived experience of haemophilia and work with other stakeholders in the community. The more Laurence became engaged in the community, the more he began to wonder how fellow haemophilia patients can support each other to upskill and advocate for better treatment and care. Research has shown than it can take more than 10 years between young people first learning to administer treatment, to effectively self-managing their condition and there are no programmes to help them in this transitional stage. As a result, On The Pulse has been working on a new initiative – a peer-led education service which will help young people to make well-informed decisions about their treatment and care.

Due to confidentiality obligations, Laurence has kindly asked not to disclose publicly his slides or video but would welcome any enquiries or feedback about his lightning talk by contacting: [email protected]

Hilary Longhurst - Medical Advisor, DC Action

Our penultimate lightning talk came from Hilary Longhurst, Medical Advisor for DC Action. DC Action is a patient support group for those with Dyskeratosis congenita, an ultra-rare condition which causes bone marrow failure and affects around one in a million people. When Hilary discovered that her family was affected by Dyskeratosis congenita, there was very little recognition for the condition, an incomplete understanding of the disease by medical professionals, and patients who were left isolated. Hilary managed to contact other patients with the condition and ultimately founded DC Action in 2016. In her presentation, Hilary explained how DC Action is working to improve recognition of the disease within the NHS to facilitate faster diagnosis, as well as reaching out to scientists and pharma to encourage further research into potential treatments.

Annabel Griffiths - Head of Rare Diseases, Costello Medical

When working in rare conditions, knowledge about a disease is generally hard to come by. This means that when you do have access to any expertise, it is crucial to make the most of it. Our final lightning talk focussed on this issue, with Annabel Griffiths, Head of Rare Diseases at Costello Medical Consulting, explaining how a tool called the Delphi method can help to capture consensus across your expert pool. This approach, which involves a series of anonymous survey rounds where points of disagreement are fed back to the group between surveys, is an effective method to collect unbiased perspectives on questions in rare diseases. It is a simple and effective way for industry to collect expert and expert patient opinion, but could also be employed by patient groups to build a consensus about clinical opinion in treating a rare condition.

As you can see, this year’s showcase had some exceptionally high calibre talks, and everyone learnt something from the event. We also had one of our most engaged audiences to date, with excellent questions generating great discussion after each talk, and plenty of promises made for further contact as people departed. It was a pleasure to work with the vibrant life sciences community in our home town once again, and it left us all very excited about our next showcase, which will be hosted in Glasgow this October.

If you would like to take Findacure’s five-minute challenge and share your rare disease story your next opportunity will be at the Glasgow 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?

With thanks to our sponsor