Cambridge Rare Disease Network Summit: rare diseases are rare but rare disease patients are numerous

On the 23rd of October, Robinson College of the University of Cambridge hosted the 3rd annual CRDN summit.

The summit brought together patient groups, healthcare professionals, 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.

The meeting started with the keynote lecture by Dr Ségolène Aymé – the founder of Orphanet. Orphanet is one of the largest and oldest resources on rare diseases which has a goal to improve the diagnosis, care and treatment of patients with rare diseases.  Its motto is: rare diseases are rare, but rare disease patients are numerous. In her talk, Dr Aymé gave an overview of the rare disease landscape, spoke about new technologies and tools available to patients, carers, and researchers,  and shared several warnings. It is important to keep in mind that medical research focused on the patients’ diseases became driven by data, technologies and IT outputs, which means that the leadership switched from MDs and biologists to molecular and IT scientists. The main thing is, therefore, to remember  that tools, algorithms and concepts from digital science and technology, valid for complicated mechanical systems, cannot address complex systems such as life. One has to remember that technologies are just instruments, and data collections are pre-competitive instruments. Ideally, a patient-centered approach to data collection and analysis should be adopted.

One of the most impressive parts of the program was patients presenting their posters. Each person was suggested to share three wishes with the audience, regarding the future care of people with their conditions. Becoming more visible, recognised and connected was a unanimous wish of the patients. In addition, many of them wished that health providers received specialised training in order to be up-to-date with rare disease research. Each rare disease patient basically becomes an expert in his/her condition and, unfortunately, often know more about it that their GPs.

A sense of community is extremely important for the survival of any
group of people and it is not always easy to find in modern days.  This
is particularly difficult, and at the same time essential, for people
with rare diseases. Knowing that there are other people with a similar condition, being able to connect and share, and hopefully, find a way to handle the problem, is of utmost importance and this goal was definitely achieved during the 3rd CRDN summit.

The Cambridge Rare Disease Network is a charity working to build a regional community of people in Cambridgeshire to address the unmet needs of rare disease patients, their families and the professionals who work with them.

You can read more about CRDN on their website and in our recent interview with its founding director Tim Guilliams.

 

One of the posters presented at the CRDN Summit.

 

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