EURORDIS Winter School 2019

In today's blog, CEO and Chair Nick Sireau tells us about his recent trip to Paris for the  European Organisation for Rare Diseases Winter School.

A major player in the world of rare diseases is EURORDIS, the European Organisation for Rare Diseases. They have helped our work on AKU for more than a decade, thanks to excellent training programmes that have allowed us to gain a better understanding of the world of orphan drugs.


In June 2011, I attended the EURORDIS Summer School in Barcelona. This was a week-long training programme on issues such as the regulatory process and the conduct of clinical trials. It proved invaluable, because at the time we were trying to set up the DevelopAKUre consortium and understand the regulatory pathway for getting nitisinone approved by the European Medicines Agency. It was also an opportunity to meet more than thirty other rare disease patient groups from around Europe. This is when I realized that AKU was in the fortunate position of being well understood and of having a potential drug that might be able to treat it. Most rare diseases patient groups have no treatment on the horizon, and understanding of their disease might be limited. 

Dr Rick Thompson, CEO of Findacure talks about drug repurposing 

Two weeks ago, I participated in the newly launched EURORDIS Winter School for rare disease patient advocates, this time in Paris. It was a week-long event hosted by the Imagine Institute for genetic diseases in the south of Paris. The Imagine Institute is an amazing organization housing more than 900 scientists, doctors and healthcare professionals and dozens of laboratories committed to research into genetic diseases. 

The Winter School focused on scientific innovation and translational research: it aimed to give us a better understanding of how pre-clinical research is carried out and how that translates into benefits for rare diseases. Talks included a history of genetics from Watson and Crick (who discovered the DNA double helix) to new generation sequencing of the genome. 

We visited a genetic sequencing laboratory and found out about the latest developments in artificial intelligence for rare diseases. We also discussed the activities of the International Rare Diseases Research Consortium, which was set up several years ago to drive the quest for new treatments for rare diseases worldwide. 

On the last day, we heard about how Brexit is affecting UK participation in European Reference Networks (ERNs): these are networks of centres of expertise, healthcare providers and laboratories that are organised across borders and enable the care of rare diseases on a European scale. Unfortunately, Brexit is leading to uncertainty over the UK’s participation in these ERNs.

All of this was particularly useful for us at the AKU Society, especially the talks on genetics as we try to launch a research programme into genetic therapy for AKU. 

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