Associate Professor Suja Somanadhan
Principal Investigator
Received a HRB Award to undertake this project
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Rare Diseases Research Partnership (RAINDROP)
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Introduction
The Rare Disease Research Partnership (RAinDRoP) was established in 2018 as a collaborative research partnership consisting of basic scientists, applied researchers, health and social care professionals, patients, advocacy and support organisations and families affected by rare diseases. The aim of the RAinDRoP initiative was two-fold. First, RAinDRoP was established as a collaborative research partnership and evolving network in response to the National Rare Disease Plan for Ireland to ensure relevant, focused and coherent research informed by the needs and experiences of people living with rare diseases. Second, to identify rare disease research priorities across the lifespan in the context of Ireland from multiple stakeholder perspectives. This study received an exemption from full ethical review by the Office of Research Ethics at UCD. The Ethics Exemption Reference Number (REERN): LS-E-19-32-Somanadhan.
Project Outline
Methods
A participatory multiple-phase approach was used to identify research priorities for rare diseases. The research process involved three main phases: Phase I, Public Consultation Survey(PCS); Phase II, Research Prioritisation Workshop (RPW); Phase III, Public Prioritisation Ranking Survey (PRS). The time frame for the entire study was from November 2018 to June 2019.
Results
In total, 240 individuals completed phase I, of which only 96 survey participants provided information on their background, 32% (n=31) self-identified as a person living with a rare disease(s). One thousand and fifteen statements were collected, which reflected issues and shared challenges in rare diseases. Phase II was focused on three main themes (1) Route to Diagnosis (2) Living with Rare Diseases (3) Integrated and Palliative Care. 42 participants engaged at each workshop. Seventy-five individuals completed the phase III prioritisation ranking survey and ranked the top 15 research priorities. The top five priorities were (1)Support at the time of diagnosis, (2) Diagnostic tests for rare diseases (3)Education and training (4) Patient voice (5) Data sharing and integration of services for rare diseases.
Conclusions
The research priorities identified for rare diseases across the lifespan were developed jointly in collaboration with patients, families, healthcare professionals and policymakers. So, we encourage researchers, funding bodies and other stakeholders to use this priority list as a guiding document for future research work to improve the health and lives of people living with rare diseases.
Project Outputs
RAINDROP Achievements so far...
- Launched a platform for the Rare Disease Research network in Ireland to promote meaningful patient and public involvement in rare disease research, education, and engagement with policymakers
- Created a consensus statement in relation to rare disease research priorities
- Created a strategic approach to rare disease research by co-produced a rare disease research priority list.
- Encourage researchers, funding bodies, and other stakeholders to use the research priority list as a guiding document for future research work to improve the health and lives of people living with rare diseases.
- Created national and international impact to raise awareness of placing families and patients at the heart of research efforts.
RAINDROP project promotional video
Publications
Somanadhan S, Nicholson E, Dorris E et al. Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland [version 2; peer review: 2 approved]. HRB Open Res 2020, 3:13
Somanadhan S. (2021) What a difference RAinDRoP makes – the interdisciplinary partnership transforming care across the life span for people and families living with rare diseases in Ireland
RAINDROP expert advisory team facilitated a number of webinars:
Unlocking the potential of genetics and genomics in Rare Diseases:
- Shane McKee: Genetic Medicine at Belfast Health and Social Care Trust, Lead of Northern Ireland's input to the 100,000 Genomes Project.
- Jim O’Byrne: Consultant Clinical/Biochemical Geneticist, Mater Misericordiae University Hospital, Dublin
Rare Disease Research and Teaching Initiatives in Academia
Prof Amy Jayne McKnight: Professor, School of Medicine, Dentistry and Biomedical Sciences Centre for Public Health, Queen’s University Belfast Queens University Belfast
- Suja Somanadhan: Assistant Professor, UCD School of Nursing Midwifery and Health Systems, UCD
- Julie Power: Vasculitis Ireland; Ms. Laura Egan: Chair Rare Ireland; Ms. Anne Lawlor: Chair 22Q11 Ireland Mr. Les Martin: Newborn screening advocate
Living with a Rare Disease
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Rare Disease Symposium
Dr. Somanadhan led the inaugural Rare Disease Symposium at UCD in May 2018 to discuss developments in rare disease research and education and to raise public awareness of rare diseases. As a result, the Rare Disease Research Partnership (RAinDRoP) was established in 2018.
Pictured (l-r) Prof Gerard Fealy, Dean of Nursing and Head of School, UCD School of Nursing, Midwifery & Health Systems; Dr Sally Ann Lynch, Consultant Clinical Geneticist in OLCHC; Prof Eileen Treacy, Clinical Lead, National Clinical Programme for Rare Diseases; Prof Thilo Kroll, Professor of Health Systems Management and HRB PPI Ignite Lead for UCD, UCD School of Nursing, Midwifery & Health Systems; Prof Orla Feely, UCD Vice-President for Research, Innovation and Impact; Ms Kay Duggan-Walls, Health Research Board and National Contact Point for Health; Dr Suja Somanadhan, Assistant Professor of Children’s Nursing, UCD School of Nursing, Midwifery & Health Systems; Dr Avril Keenan, CEO, MRCG; Mr Philip Watt, CEO, Cystic Fibrosis Ireland; Mr Paul Harkin, Director of Strategic Development, UCD School of Medicine; Dr Sean Ennis, Director of UCD Academic Centre on Rare Diseases.
Project Infographic
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