Associate Professor Suja Somanadhan
Received a HRB Award to undertake this projectMy Research Profile
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.
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.
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.
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.
RAINDROP project promotional video
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
Unlocking the potential of genetics and genomics in Rare Diseases:
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
Living with a Rare Disease
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.