Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland.

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dc.contributor.authorSomanadhan, Suja
dc.contributor.authorNicholson, Emma
dc.contributor.authorDorris, Emma
dc.contributor.authorBrinkley, Aoife
dc.contributor.authorKennan, Avril
dc.contributor.authorTreacy, Eileen
dc.contributor.authorAtif, Awan
dc.contributor.authorEnnis, Sean
dc.contributor.authorMcGrath, Vicky
dc.contributor.authorMitchell, Derick
dc.contributor.authorO'Sullivan, Grace
dc.contributor.authorPower, Julie
dc.contributor.authorLawlor, Anne
dc.contributor.authorHarkin, Paul
dc.contributor.authorLynch, Sally Ann
dc.contributor.authorWatt, Philip
dc.contributor.authorDaly, Avril
dc.contributor.authorDonnelly, Susie
dc.contributor.authorKroll, Thilo
dc.contributor.departmentUCD School of Nursing, Midwifery and Health Systems, University College Dublin, Belfield, County Dublin, D04 V1W8, Ireland.en_US
dc.date.accessioned2021-09-06T08:31:02Z
dc.date.available2021-09-06T08:31:02Z
dc.date.issued2020-11-11
dc.descriptionBackground: Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. 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 the 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. MSExcel was used to gain frequencies and percentages. Phase II was focused on three main themes (1) Route to Diagnosis (2) Living with Rare Disease (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 test 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 here for rare diseases 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.en_US
dc.description.abstractBackground: Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. 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 the 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. MSExcel was used to gain frequencies and percentages. Phase II was focused on three main themes (1) Route to Diagnosis (2) Living with Rare Disease (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 test 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 here for rare diseases 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.
dc.identifier.doi10.12688/hrbopenres.13017.2
dc.identifier.eissn2515-4826
dc.identifier.journalHRB open researchen_US
dc.identifier.pmid33299965
dc.identifier.urihttp://hdl.handle.net/10147/630291
dc.language.isoenen_US
dc.rightsCopyright: © 2020 Somanadhan S et al.
dc.source.beginpage13
dc.source.countryIreland
dc.source.endpage
dc.source.journaltitleHRB open research
dc.source.volume3
dc.subjectPPIen_US
dc.subjectRARE DISEASEen_US
dc.subjectlife-courseen_US
dc.subjectparticipatoryen_US
dc.subjectresearch prioritisationen_US
dc.titleRare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland.en_US
dc.typeArticleen_US
dspace.entity.typePublication
refterms.dateFOA2021-09-06T08:31:03Z
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