On 25th – 26th March 2025 at the Hyatt Regency Manchester, the Rare Disease Research UK (RDR UK) Platform brought together over 300 leading researchers, clinicians, industrial partners, charities, policymakers and patient representatives for a two-day scientific programme focused on advancing rare disease research across the United Kingdom and beyond.
The first day opened with welcoming remarks from William Newman (University of Manchester). An overview of recent developments from the RDR UK Hub was then provided by Dave Jones, Victoria Hedley and Amy Hunter, highlighting key achievements and strategic priorities.
A keynote presentation by Stephanie Croker (Department of Health and Social Care) emphasised the alignment of research activities with the UK Rare Disease Framework, underscoring the government’s commitment to fostering impactful scientific inquiry.
Subsequent sessions examined the evolving research landscape through presentations from representatives of the RDR UK Hub, LifeArc, the Rare Therapies Launchpad and the Rare Disease Research Network. A panel discussion chaired by Victoria Hedley further explored the opportunities and challenges shaping rare disease research in 2025 and beyond.
Capacity building was addressed in a dedicated session led by Louise Oni and Dave Jones, underscoring the need to equip emerging researchers with the skills and infrastructure necessary to sustain progress. Recognition of best practice in Patient and Public Involvement and Engagement (PPIE) was marked by the inaugural Early Career Researcher Award, presented by Jillian Hastings Ward MBE.
In partnership with the Manchester Rare Conditions Centre, the RDR UK Nodes led and co-led by the University of Manchester segmented the second day into three concurrent conferences, each addressing distinct aspects of rare disease research.
The REOLUT Conference focused on showcasing the scientific advances and future directions in this much under-researched field. The day began with a keynote from Jennifer Rohn (University College London), who presented cutting-edge work on modelling the human urinary tract.
The afternoon featured a compelling talk by Sebastian Osorio Rico (University of Antioquia, CO) on patient experiences, followed by five short presentations spanning epispadias pathology, genetic variants, advocacy, gene therapy and antifibrotic treatments. Sean Gavan (University of Manchester) concluded the session with an analysis of the health economics of gene therapy.
A final panel discussion reflected on key learnings and future patient impact, with contributions from leading advocacy organisations and international collaborators.
The inaugural Conference of the EpiGenRare Node provided a focused platform for knowledge exchange and interdisciplinary collaboration in the field of rare disease epigenetics. Albert Basson (University of Exeter) provided an overview of the EpiGenRare Node’s mission and goals. A keynote lecture by Hans van Bokhoven (Radboud University, NL) explored innovative strategies for gene upregulation in haploinsufficiency disorders using iPSC-derived neural cells.
The scientific programme featured a series of high-calibre talks, covering diverse topics such as chromatin dynamics, transcriptomic alterations and new gene discoveries relevant to neurodevelopmental disorders. Speakers represented institutions across the UK and Europe, highlighting cutting-edge epigenomic methodologies and their clinical implications.
The afternoon concluded with a keynote from Wendy Bickmore (University of Edinburgh) on gene regulation in the non-coding genome, followed by a powerful personal perspective from the CHARGE community.
The ELSI Conference explored the ethical dimensions of rare disease research with a focus on lived experience and patient-centred practice. A compelling plenary session opened the day, where Simon Jones (University of Manchester) and a family affected by a rare condition shared powerful insights into what matters most to children, young people and families participating in rare disease trials.
A mid-morning panel discussion, chaired by Sinduja Manohar (VOCAL & We R Rare), brought patient advocates and family representatives into meaningful dialogue about clinical trial priorities and treatment experiences.