Europlan II National Conference blog by AKU society

Europlan II National Conference

Wednesday, June 25, 2014

Yesterday the team attended the EUROPLAN II conference in London. In November 2010 Rare Disease UK (RDUK) hosted the first conference as part of the EUROPLAN project. This meeting was part of the second phase of EUROPLAN.


EUROPLAN is a project embedded in the European Union Committee of Experts on Rare Diseases (EUCERD) Joint Action. Its goal is to speed up the implementation of Rare Diseases National Plans and coordinate them so they have similar threads across Europe.

EUROPLAN National Conferences are an important opportunity for patients and rare disease advocates to give their input to the policy debate around the coordination of services in the UK and Europe.

EUCERD assists the European Commission (EC) in implementing rare disease activities and policies, whilst promoting the importance and visibility of rare diseases. The project also involves EURORDIS, who oversee the conferences.

The Event

The day opened with a welcome from Alastair Kent, the director of Genetic Alliance UK and the chair of Rare Disease UK (RDUK). He explained the overall goal to improve services for rare disease patients across the UK and Europe by sharing insight and knowledge to work towards a common consensus.

The UK Strategy

The first section of the day focused on how a strategy for rare diseases is being implemented across the UK. Robin Herbert from the Rare Disease Team at the Department of Health spoke first on the overall UK strategy.

Representatives from England, Wales, Scotland and Northern Ireland then presented on the development of rare disease plans for each of the countries. One of the biggest issues raised was whether there is any coordination between the individual plans. Each NHS system is run separately, so it is understandable the rare disease plans must also be developed separately. However, all of the speakers agreed that working together is key.

Elizabeth Porterfield from the Scottish Government stressed the importance of working with the UK as a whole. Being able to access specialised services across the UK was a key reason, as well as the need to develop a UK wide rare disease database.

Alastair Kent closed the session by talking about the UK Rare Disease Forum and how patient groups are involved through the RDUK patient empowerment group- a group that our Patient Support Officer, Lesley, has joined.


The next session of the day was chaired by our Chairman and CEO, Nick Sireau. The focus was on the opportunities for research in to rare diseases across the UK. One problem highlighted by the session was the lack of publicity behind rare disease research. It is very difficult to break down how much funding goes to rare disease research and where this money comes from.

Dr Ian Frayling from Cardiff University explained the need for a database of rare disease research. For rare diseases it is particularly important to collaborate not only across the UK, but across Europe.

Dr Amy Mcknight from Queen’s University Belfast agreed, saying data sharing needs to be electronic. A panel discussion then followed, with Nick leading the questions and asking about the importance of patient involvement in research decisions.

Dr Mcknight stressed that patient involvement is crucial for the researcher. Patient groups often have more knowledge about their condition than any other organisation, with a database of existing research, patient contacts and other important information. This is valuable to the researcher, and can often improve the quality of research.

Centres of Excellence

The final talks of the day were about centres of excellence and the European Reference Networks. This session was chaired by Kate Bushby, Professor of Neuromuscular Genetics at Newcastle University and Vice-Chair of the EUCERD.

One issue raised was access to specialised services in Northern Ireland, Scotland and Wales. Many patients from these countries have to travel to England for these centres of excellence. This is because England has a considerably bigger population than Northern Ireland, Scotland or Wales. This can be an issue, especially with funding and long distance travel.

Dr Jonathan Berg said that although access to specialised services is fairly good in Scotland, there needs to be better coordination of that care across the country. Centres of excellence are essential for rare disease patients, as they are often the only place with the specialist knowledge and care required.

However, the need for networks of excellence was stressed in the panel discussion. Throughout the session the use of new technology, such as skype calls and healthcare apps, were highlighted as ways to continue care when patients are at home.

Dr Fiona Stewart from Belfast City Hospital also discussed the need for better guidelines from specialist centres, so that local doctors can help patients continue their care at home.

Overall the day brought up many of the challenges surrounding rare disease care. With so many different rare diseases, and so many different challenges in every country, bringing together a coordinated rare disease plan will not be easy, but meetings like this are essential to ensuring success.

If you have something to say about the topics raised in this blog, and would like Lesley to bring it up in the RDUK patient empowerment group, please

Another positive step, forward ......

Great stuff Alan and another reason why Scotland must stay part of the union. Rare diseases as a whole must have a better voice and better care