Findacure reflections on CRDN2017 summit – Re-imagining the Patient Journey

On 23rd October the rare disease community gathered in Cambridge for the Cambridge Rare Disease Network’s third annual summit. This day long conference is always a great opportunity for Findacure to meet up with the rare disease community on our own door step, and we were thrilled to be invited to speak on the day. Rather than give a blow by blow account of the day, Findacure’s CEO Rick decided that his blog for the week would highlight some of its major themes.

All conferences are different. They have a different focus, target a different audience, and deliver a very different atmosphere. In a month filled with conferences, including Rick speaking at Bio2Business, an orphan drugs and rare diseases conference in London, and Katie attending EyeforPharma, it is the conferences focusing on rare diseases that have been particularly special. In addition to our own Newcastle Rare Disease Showcase event (more about that soon), the Findacure team had the pleasure of attending the CRDN summit.  After a great day, I thought that I’d share my thoughts on what the CRDN summit stands for.

C is for collaboration

Collaboration really was at the heart of the CRDN summit. The team had worked hard to select a programme of talks that showcased projects in the rare diseases that involved many different disciplines. The specialist orphan drug pharmaceutical company Sobi spoke about their work with patient groups, both to help develop new treatments, and to improve the way that drugs are delivered to ease their day-to-day lives. The Mendelian team highlighted the work there online platform is doing to provide an effective digital diagnostic tool which is accessible and helpful to primary care professionals. Importantly this tool is responsive and relies on the input of clinicians around the world to improve its results. Finally Kay Parkinson, CEO of Cambridge Rare Disease Network, gave an excellent talk about her personal experience as a mother of two children with Alström syndrome. When exhibiting a poster about the condition at an international conference, she made contact with a pharmaceutical company who had a product that had the potential to act as a treatment for this condition. From this serendipitous meeting, a research project and clinical trial for this ultra-rare condition has snowballed.

R is for “Read all about it”

A great innovation of the conference, and real highlight for me, was the patient journey poster competition (a project born from Kay’s own poster experience). Prior to the conference 33 different patient groups took the time to produce posters to summarise their rare condition and their own patient journey. These posters were shared with all delegates in printed form so that everyone, whether clinician, researcher, life sciences worker, or rare disease patient, could read all about the impact of a multitude of rare diseases.

Even more excitingly five poster authors were selected to give a five minute lightning talk during the conference, telling the audience a little about their condition and their three wishes for the future. The CRDN team asked Findacure to chair this session, and Mary Rose and I brought our dreaded bell along to help ensure that all of the speakers kept to time. It was a real pleasure to be involved in this session, and the talks were of an exceptional quality.

D is for diversity

The whole day was hugely diverse, with a number of different sessions helping to bring different interest groups into the rare disease fold. The team from Students4RareDiseases were involved in a session with medics, students, and genetic counsellors focussing on the role early career healthcare professionals can play in rare diseases. There was also a session focussing on the role of technology in rare diseases, with the team from No Isolation showcasing a robot avatar, which is designed to help children who are unable to attend their school due to ill health remain engaged in the classroom. These two breakout sessions combined with the CRDN Companies Forum and patient journeys posters, really ensured that everyone had a place at the event.

N is for new hope

The whole event was a great showcase for rare diseases, and we are grateful to the CRDN team for giving Findacure such an exciting role in the day. Between the talks on drug repurposing, gene editing, and the impatient patient revolution, I left the day with the sense that there is lots to look forward to for rare disease patients in the near future.


Cambridge Rare Disease Annual Summit – Oct 23 2017

Following the success of our 2 previous summits the Cambridge Rare Disease Network is pleased to announce our 3rd annual International Rare Disease Summit.

Venue: Robinson College, Cambridge will be hosting our event on 23rd October 2017

Costing: tiered pricing with early bird tickets and discount tickets for patients and patient groups, students and start-ups.


This day long event seeks to create a forum that brings together patient groups, healthcare, academics, researchers, biotech companies, and the pharmaceutical industry in a spirit of collaboration, innovation and passion to re-imagine and re-invent the Rare Disease patient journey.

Theme: “Re-imagining the Patient Journey”

We will provide a morning of exploration of inspirational Rare Disease patient journeys where patients and patient carers have been partners in healthcare and treatment development. Take a walk with us through case-studies from early symptoms, dead-ends and steps forward to diagnosis, patient group formation, campaigning and research to pharma collaboration and drug development.

The afternoon will showcase pioneering work being undertaken in Cambridge and around the world to re-imagine and re-write the endings of Rare Disease Patient journeys from drug re -purposing and pharma ‘adoption’ of rare diseases to empowering patient revolution.


Patient groups a chance to showcase posters in a Patient Journey gallery and all delegates will enjoy wide networking opportunities with exhibition stand holders from industry and patient organisations.

Followed by a drinks and canape reception in the pleasant surroundings of the Crausaz Wordsworth building on site.


Confirmed Speakers with more pending:

  • Dr Ségolène Aymé -Founder of Orphanet
  • Dr Kate Bushby – Professor of Neuromuscular Genetics, Newcastle University John Walton Centre for Muscular Dystrophy Research
  • Dr Ana Mingorance – Dracaena Consulting, Chasing cures for neurological and rare diseases
  • Dr Rick Thompson – Head of Research, Finadacure
  • Neil Dugdale – General Manager, UK and RoI, Sobi
  • Kay Parkinson – CEO, CRDN and Alstrom Europe
  • Dr Owen Vaughan – Senior Director, Regulatory Affairs, ProMetic Pharma SMT Ltd
  • Dr Sanjay Patel – Senior Director, ProMetic Pharma SMT Ltd
  • Daniel Lewi – CEO, Cure and Action for Tay-Sachs Foundation

Rare disease nursing in Cambridge: a debate

With 1 in 17 Britons born with or developing a rare disease, and with medical advances offering exciting new treatments to extend the lives of rare disease patients, we need innovative new options in holistic, patient-centred healthcare – such as rare disease specialist nurses.

Current care options for rare diseases put the burden on the patient to navigate multiple specialists, cover expensive travel and potentially spend long spells in hospital. This results in missed diagnoses, missed opportunities for treatment and leads to higher healthcare costs for patients and healthcare networks.

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