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Rare disease patient registries workshop

Our last workshop of 2016 explored the importance of patient registries and how patient groups can support them.

Rare diseases pose great challenges for research, primarily because each condition affects so few people. Patients are dispersed around countries, around the world, and very little is known about how the condition progresses and affects individual people. Patient registries can be a crucial tool in overcoming this challenge. Registries collect patient data into a central location, where researchers and healthcare professionals can extrapolate patterns and better understand the condition.

To explore the importance of patient registries and how patient groups can support them, we organised a workshop on the topic last Friday (16th September). 46 delegates braved the harsh weather conditions and faltering transport links to attend, from 40 different patient groups and organisations.

Our Executive Director, Flóra Raffai, opened the workshop, using the opportunity to launch our brand new online portal. Following feedback from users of our 2015 beta portal, we have worked with developers this year to re-create the portal and worked with volunteers to add even more information and detail to courses. The new portal is now freely accessible for all patient advocates and patient groups via

Chris Sotirelis - Trustee Advisor, RD Connect

The first presentation was then given by Chris Sotirelis, from the UK Thalassemia Society and RDConnect, who gave a comprehensive introduction to patient registries. Chris explained that registries can spark clinical innovation, especially in rare diseases, where they can be the only existing source of information about the natural history of the condition. Additionally, in rare diseases, there is evidence to suggest the quality of care and life expectancy of patients dramatically improves when registries exist. He then introduced RDConnect, an international initiative to create an integrated platform connecting databases, registries, biobanks, and clinical bioinformatics for rare disease research.


Avril Kennan - Head of Research, DEBRA Ireland

Avril Kennan from DEBRA Ireland was next to speak, providing the first of two case studies of patient group-led rare disease registries. Avril shared the current progress of DEBRA Ireland to establish a registry for epidermolysis bullosa, by outlining the motivations and steps taken by the charity. She also delved into the challenges and positives associated with the journey, along with her top tips for others looking to set up their own registries. Avril stressed the importance role patient groups play in setting up a registry, as they are trusted by all other involved stakeholders and can reassure all participants about the value of endeavour.


Rebecca Cosgriff - Registry Lead, Cystic Fibrosis Trust

Following a quick tea break and networking, Rebecca Cosgriff from Cystic Fibrosis Trust presented the second patient group case study of the afternoon. The Cystic Fibrosis registry has been collecting data since 1996 and has been managed by the Cystic Fibrosis Trust since 2007, covering 99% of the UK cystic fibrosis population. Rebecca shared how the registry has acted as a tool to engage their patient population around research and demonstrate changing patient needs to healthcare providers. The Trust will also soon launch registry-based clinical trials, reducing the cost of traditional trials and creating a data legacy for the whole community.


Asha Hareendran - Senior Researcher Leader of Patient-Centered Research, Evidera

Our final speaker was Asha Hareendran from Evidera. Asha provided an alternative approach for patient groups to get involved with registries, as not every patient group has the resources to set up or take over registries. Asha presented how patient groups can act as advisors to pharmaceutical companies setting up registries to support clinical research, by representing patient views and needs in decision-making. For example, patient groups can provide patient perspectives on the research topics and questions pharma wish to explore and the acceptable frequency with which patient data can be collected.

We would like to thank all the speakers for their informative presentations, Hamilton House for the wonderful venue and catering, and all of our delegates for participating.


Rare disease patient registries

by Libbie Read time to read: 5 min