Rare Disease Research UK’s 1st Annual Conference

The 1^st Annual RDR UK conference took place on 26^th March 2024 at The Catalyst, Newcastle upon Tyne, bringing together around 120 individuals with an interest in rare disease research, including researchers, healthcare professionals, patients, and industry representatives, either in person or online.  The theme of the conference was “Exploring the rare disease research landscape” with the aims of 1) introducing the UK Rare Disease Research Platform funded by MRC and NIHR; 2) exploring recent developments in the rare disease research landscape, in the UK and beyond and 3) understanding strengths and needs around key topics of relevance to rare disease research.

Presentations given at the conference were as follows:

• Perspectives from the NIHR: Professor Lucy Chappell, Chief Scientific Advisor, DHSC & Chief Executive Officer, NIHR

• The UK Rare Diseases Framework & Results of the Rare Disease Research Landscape Project: Dr Kath Bainbridge, Head of Rare Diseases and Emerging Therapies, DHSC

• LifeArc’s Rare Disease Translational Challenge: Dr Catriona Crombie, Head of Rare Disease, LifeArc

• The Rare Disease Research UK Platform:

  • Perspectives from the MRC: Professor Brian Walker, Chair MRC Population and System Medicine Board & Deputy Vice-Chancellor, Newcastle University

  • CILIAREN Node: Professor John Sayer, Clinical Professor of Renal Medicine, Newcastle University & Lead - CILIAREN Node

  • CAPTIVATE Node: Dr Victoria Homer, Senior Biostatistician, University of Birmingham & Co-Director - CAPTIVATE Node and Dr Alex Wimbush, Biostatistician, University of Birmingham & CAPTIVATE Node

  • Lipidomics and Metabolomics for Rare Disease Diagnosis Node: Professor William Griffiths Professor in Mass Spectrometry, Swansea University & Lead - Lipidomics and Metabolomics Node

The day also featured engaging panel discussions on

• Reflections on the new landscape and its opportunities: Victoria Hedley (Chair), Professor Joe Bateman, Dr Catriona Crombie and Dr Victoria Lund. The discussion highlighted the need for collaboration - in the new UK landscape broadly, but especially between the new LifeArc Translational Research Centres and RDR UK - in addressing challenges in rare disease research. The panel emphasized the opportunities to foster improvements in terms of building partnerships, optimising access to and usefulness of data infrastructures, and embedding robust patient involvement, with a focus on training, investment, and optimizing platforms for scientists and patient groups.

• PPIE good practice – perspectives from contributors and researchers: Kerry Leeson-Beevers (Chair), Clare Powell, Lynn Laidlaw, Dr Kaustubh Adhikari and Natasha Lindsay. This discussion explored the significance and implementation of Patient and Public Involvement and Engagement (PPIE) in research, featuring personal journeys and initiatives from individuals involved in various projects. The panel emphasized the importance of qualitative-driven research, diversity, trust-building, and collaboration for meaningful engagement with patient communities.

• How can we best collaborate with Industry for better, faster rare disease trials: Professor Volker Straub (Chair), Nick Sireau, Sheela Upadhyaya and Professor Lucinda Billingham. The session focused on highlighting challenges and opportunities around engaging the pharmaceutical industry engagement and explored ways to make the UK most attractive for clinical trials. Reasons for clinical trial failures were discussed, along with strategies to avoid trials failing needlessly. The panel also emphasised good practices and opportunities around revising the pharmaceutical registration processes, patient involvement in drug development, infrastructure development, and boosting competitiveness in rare disease research.

Moving forward, RDR UK plans to hold topic-specific workshops and a conference each year, each hosted in various locations across the UK. Each conference will be an opportunity to showcase the impact of RDR UK and the progress made in the nodes’ research initiatives. These gatherings will bring together people from all parts of rare disease community to work together, share ideas, create awareness and find new ways to accelerate rare disease research and treatment.