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Take away headlines from the Eurordis Conference Edinburgh May 2016

The European Conference on Rare Diseases & Orphan Products is a biennial conference and a unique opportunity to come together to connect and share information and thoughts with other members of the rare disease community. This year it was held in Edinburgh and united all rare disease stakeholders from all European nations and beyond- patients and patient representatives, healthcare professionals and researchers, industry, payers, regulators and policy makers alike- in the fight against rare diseases.

I attended the event for the trust and found it particularly inspiring as well as giving me the opportunity to network and raise awareness of the trust and of NETs in general. The theme of the conference was Game Changers, “ Game Changers in Rare Diseases Delivering 21st century healthcare to rare disease patients: Together we can change the future!” The key themes were Game Changers in Research, Game Changers in Diagnosis and Game Changers in Drug Development & Authorisation. It was very interesting to hear how many similarities there are accross rare diseases. While the conference did not focus on any particular diseases we did hear common themes, such as isolation felt by patients and carers, access to treatments, the need for education. Many of the issues I heard could have come from our own members. It was particularly interesting to hear from a lady from Luxembourg who said that due to their size they have only a very few specific disease groups and most meet under the banner of Rare Diseases.

Plenary Session

A keynote address was given by Maureen Watt, MSP, Minister for Mental Health in the Scottish Government. She highlighted how the Scottish Government are very supportive of rare diseases. The Scottish Government have allocated partnership funding of £6M for Genetics and whole Gene sequencing. The NHS in Scotland have started with photosensitive outreach work. The Minister explained how health professionals in Scotland are changing from asking “what is the matter with you” to “what matters to you”, and this was picked up many times as a game changing ethos. She emphasised how collaboration is the key to changing the future. This theme of collaboration and working together ran through most of the conference.

Alastair Kent, Director of Genetic Alliance UK, welcomed Scotland’s commitment to Rare Diseases, gave a history of medical advances and how the last few years have seen a sea change, from “Rare Disease - why should we bother?” To now we realise people with rare diseases represent a significant expenditure but treating them results in maximum health gain. His clear message was we have won the argument, now we are partners and we will be the drivers.

Tom Shakespeare, Senior Lecturer Norwich Medical School was predictably controversial, suggesting that drug companies are exploiting patients, because orphan drugs are big business. His point was really that addressing rare disease is multi-factorial, yes we need to keep doing the science and developing drugs but the costs need to come down. We also need to bring down barriers citing his own example, where it is more cost effective to lower the light switches than to develop drugs to make him taller.

Hearing from a panel of young people was particularly interesting. One of the panel explained how yes modern technology and social media is great for bringing people together but we still need to talk to people face to face. The three things young people want most is Independence, Inclusion and Control. They also need age appropriate information.


I attended a session on Genetics which was absolutely fascinating. Prof Mark Caulfield, Chief Scientist, gave a presentation on the 100,000 genomes project. I was also lucky enough to speak to him on the margins and came away rather star struck. It seems that it will soon be as cost effective to carry out whole genome sequencing as to test against known mutations as we tend to do at the moment. This despite the fact that the human genome takes up the space of a small hard drive. To my mind this will be a big game changer. The other area he thought would yield results was in testing tumour tissue for somatic mutations and this may lead eventually to more personalised medicine. One word of warning about the commercial companies who are now doing genomic testing. It is important to know that while this may be an attractive proposition for some, they tend not to have the back-up support, such as treatment options or genetic counselling. The other big issue here is data protection.

Gareth Baynam Clinical Geneticist, Genetic Services of Western Australia Head, Western Australian Register of Developmental Anomalies gave a presentation on a phenotyping project in Australia. This project has had some interesting results where they have matched patients with the same or similar pheonotypes to arrive at a diagnosis for rare conditions. Phenotyping is something doctors do everyday, it occurred to me that actually doctors are the only people who can comment on your appearance and still be politically correct. However by digitising the information it makes it easier for the computer systems to match these characteristics up. So for instance he showed a slide of a boy with a slightly deformed foot, which could easily have been missed but the system matched it to someone else with a similar deformity and so a diagnosis was made and successful treatment was possible.

A session on clinical trials sparked some interesting debate on how to design trials for ultra rare conditions. Should we lower the standards for trials where the patient population is very low? If so what standards should be used? Do we actually need to test every drug against placebo? Could we not have one drug tested against placebo and use the placebo arm of that trial to test other drugs against? This session was very supportive of the need to include patients and patient groups in clinical trials, and also the need for training for those patients.

If anyone has any questions I am happy to discuss or to elaborate.

Linda Story


Content from the European Conference on Rare Diseases & Orphan Products 2016 is all available at the following links.

The European Conference on Rare Diseases & Orphan Products 2016 (ECRD 2016) was a great success with over 700 participants from more than 40 countries coming together in Edinburgh. See the conference photos, press release, posters exhibited, presentations and watch videosof the opening, plenary and closing sessions (including speeches from: Maureen Watt, Minister for Mental Health, Scottish Government;George Freeman MP, UK Minister for Life Sciences; testimony from rare cancer survivor Igor Ban; Professor Tom Shakespeare; Alastair Kent, Director of Genetic Alliance UK; and a youth advocates panel).

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