The ELSI Node is a partnership between Manchester, Oxford and Cardiff, committed to addressing important issues such as:
1. Consent to testing and taking part in clinical trials.
2. Living with an undiagnosed rare condition.
3. Understanding the psychological and social impact of rare conditions.
Within each of the three sub-projects, there is a specific role for patients, families and support groups, who will be involved the node’s research and engagement plans as active participants since those affected by rare conditions should have a say in decisions about the research that may affect them.
The Node will also collaborate with scientists, clinicians, charities, patients and communities, enabling closer integration of national ELSI expertise and work as an integrated system to deliver innovations that serve the needs of the Rare Disease Research Platform, across all rare conditions and all life stages.
ELSI Team
Investigators
Researchers
Tara Clancy
Consultant, University of Manchester
Rachel Horton
University of Oxford
Faye Johnson
University of Manchester
Shane Doheny
Cardiff University
Susie Weller
University of Oxford
Rebecca Dimond
Cardiff University
Project Managers
Henry Frost
University of Manchester
Gabrielle Parkinson
University of Manchester
Scientific Advisory Board
At the project’s inception, we appointed a Scientific Advisory Board (SAB). To ensure that our science is world-leading and publicly relevant, we invited a diverse mix of patient representatives, clinicians, and scientists to inform our research. We will meet with them once a year to guide our efforts in expanding our network, co-developing future projects, and connecting with international initiatives in epigenetic rare diseases.
We are delighted to have the following SAB members:
- Siddharth Banka (University of Manchester, UK).
- Felicity Boardman (University of Warwick, UK).
- Sofia Douzgou Houge (Haukeland University Hospital, Norway).
- Nichola Garde (BBC,UK).
- Alison Hall (University of Cambridge, UK).
- Adam Hedgecoe (Cardiff University, UK).
- Jamie Kirkham (University of Manchester, UK).
- Celine Lewis (University College London, UK).
- Katherine Payne (University of Manchester, UK).
- Ine Van Hoyweghen (Katholieke Universiteit, Belgium).
- Danya Vears (Murdoch Children’s Research Institute, Australia).
- Sarah Wynn (Unique, UK).
Publications
- Ciucă, A., et al., Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases. Journal of Clinical Epidemiology, 2023. 161: p. 84-93.
- Ciuca, A., et al., Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions. Journal of Clinical Epidemiology, 2025. 178: p. 111617.