The Cambridge Rare Disease Showcase 2019

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 location of Findacure HQ. This is why, each year, we hold the Cambridge Rare Disease Showcase, a highlight of our social calendar held right in the heart of the hustle and bustle of this great city.

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.

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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.

https://youtu.be/u4tuyZqZsjY

Katy Baker: Vice President of Welfare, Northampton Students’ Union

After a short networking break, Katy Baker took to the floor to discuss the challenges those living with rare disease face when it comes to mental health. Katy began by telling the audience about her experience with the rare condition Scimitar Syndrome, which has caused her heart to be on the wrong side of her chest and only one working lung. ‘I think you need to look at a person’s mental health just as much as their physical health’ was the fundamental message Katy wanted everyone to take away from her talk. It is all too easy for the mental health of those with rare diseases to be completely neglected by healthcare professionals. Katy desires reassurance from doctors, including ‘regular updates in terms we actually understand about research being done […] and reassurance by being shown interest’. People with a rare disease are two to three times more likely to have a mental health problem. By addressing this problem and treating the ‘whole person’ rather than just the rare condition, doctors will be better able to ensure the wellbeing of patients.

Dr Steve Webster: Lecturer in Innate Immunity, University of Cambridge

Steve opened with a discussion of inflammation. Although the media tends to view all inflammation as ‘a terrible thing’, inflammation is necessary. In immunology, inflammation in the body needs to be rebalanced, rather than eradicated altogether (which would mean someone would be immunocompromised), it needs to be rebalanced. Steve refers to this as the ‘Goldilocks Effect’. Steve’s area of research is the rare condition Chronic Granulomatous Disease (CGD), which ‘is caused by a genetic defect in an important antimicrobial defence system’. CGD patients also have severe inflammatory disease which is not properly understood by doctors. Some drugs used to deal with this have positive effects but suppressed inflammation so much that they caused further problems; this therapy is simply too powerful, making patients even more immunocompromised due to it shutting down all inflammation. Steve’s lab has identified a specific pathway to target, through the use of animal models, that will balance this inflammation. Steve finished his talk by thanking the CGD patients themselves who have been involved in the study, ‘because without the interactions between the patients, commissions and academics we wouldn’t be able to do these studies’. Indeed, this is the case for all studies involving rare diseases and it is reassuring to see patient-centricity becoming more commonplace.

Dr Tony Hall: Chief Medical Officer, Aparito

Tony began his presentation by putting a bold statement up on the board- ‘imagine a future where people with rare diseases have access to treatments that genuinely improve the quality of their lives’. Aparito’s vision is to contribute to this sort of life-changing treatment and ensure that patients have access to it. Rare disease patients’ ‘journey through the healthcare system is not really well known [and] the burden of disease on the patient is often not very well characterised’, says Tony, ‘and then a company will come and say we’re going to develop a treatment’. The things which matter (the endpoints) to patients are very rarely aligned with those of regulators. Aparito uses mobile technology to ‘see the disease in motion’, capturing data on a patient for the entire duration of a clinical trial, mapping their course through the healthcare system and associated costs. Aparito’s hope is that this technology will reduce the cost of drug development. Data collected from variables, including Garmin and Fitbit devices, is uploaded by Bluetooth onto a mobile app.

Stephen Jones: Chair, Action for Pulmonary Fibrosis

After everyone had refreshed and sated themselves with the fabulous food and drink on offer, Stephen Jones took to the floor. Asking the audience if they have ever heard of idiopathic pulmonary fibrosis, an impressive proportion of the audience raised their hand. It is a lung-scarring disease which has a prognosis of just 3-4 years which is worse than most cancers. Stephen says that ‘there is no hope of remission with IPF unless you are like me and lucky enough to get a lung transplant. Unfortunately, just one percent of people with IPF have a lung transplant. Action for Pulmonary Fibrosis was set up in 2013 and over the last six years have expanded to 75 patient support groups encompassing 4000 IPF patients regularly attending the meetings. Stephen believes support groups are ‘absolutely invaluable’ for patients with IPF. The charity has self-funded two major research fellowships in the last year and arranges pharma companies to meet patients and ‘understand the patient journey’. The disease it little-understood by doctors and Stephen believes that in the next few years it will emerge that IPF is not one disease but a range of disease pathways. The ‘dream’ of Action for Pulmonary Fibrosis is for the condition to be able to be managed in the way that HIV/AIDs now is, rather than being a death sentence.

Dr Valeria Nicoli-Carr: Global Director of Patient Services, Patient Primary

Valeria opened her talk by discussing the common reasons why patients drop out of clinical trials, including travel inconvenience and lack of appreciation for the time they have to give up for the research industry, which leads to a drop-out rate of 30%. The high drop-out rates during clinical trials lead to a delay in drug development. Patient Primary places an emphasis on ensuring that patients’ needs are being met during the trials which will ultimately result in better outcomes for everyone involved. They try to be ‘the first point of contact with the patients’ and forge strong and supportive relationships.

2019’s Cambridge showcase had an exceptionally high calibre of talks from all facets of the rare disease community, 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. 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 Manchester 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 Manchester Rare Disease Showcase on the 10^th of October. Registration is open now, with lightning talk slots up for grabs until mid-September. Why not find out more?