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More than one-third of cancer-related health information is unreliable or misleading. With increasing health information seeking, the risks of misinformation exposure are growing. Educational approaches that are delivered clearly and in accessible formats are a promising way to strengthen critical thinking and decision-making skills, thereby helping to reduce the exposure of those impacted by cancer to misleading cancer information. This pilot randomised trial will assess the feasibility and acceptability of conducting a larger definitive trial evaluating the Informed Health Choices-Cancer (IHC-C) programme. The IHC-C is an online evidence-based education programme co-designed by stakeholders, including public and patient partners. It aims to equip people impacted by cancer (i.e., current patients, survivors, caregivers, and loved ones) with the skills and knowledge necessary to think critically about the reliability of health information and claims and make informed health choices. Participants will be randomised to either the IHC-C intervention group or a waitlist control group. The primary outcome of this pilot trial are feasibility (recruitment and retention rates, etc.) and acceptability (participant satisfaction and perceived usefulness, etc.). Demographic and cancer-related data will be collected to characterise the sample and inform recruitment strategies for a future definitive trial. Preliminary measures of critical thinking and decision-making skills will also be gathered to support the selection of key outcomes for the future trial. This pilot trial will inform the design and conduct of a future definitive randomised trial. Insights gained will inform sample size estimations, refine recruitment strategies, optimise programme delivery, and improve data collection processes, ensuring a robust and scalable approach for the definitive trial.

This paper offers a multi-perspective approach on the role of engaged research in health and social care. Each of the authors focuses on their individual experiences of this domain, from the perspective of an academic partner of the Health Research Board’s PPI Ignite programme, a CEO of an umbrella organisation for health research charities and a researcher in design innovation, focusing on health research. The paper outlines the values which underpin public and patient involvement, as well as examples of its application as engaged research. It details how organisations like Health Research Charities Ireland support and enable engaged research within health and social research and policy. This paper offers a framework for facilitating dialogue and response across all stakeholders in the engaged research process, illustrating the importance of engaged research and how we can further our understanding and application of it within health and social care policy by adopting a design-led approach. We argue that a design-led approach can both facilitate engaged research as well as support policymakers in the design of new policies and practices.

The intragenic heterogeneity encountered in many dominant disease-causing genes represents a significant challenge with respect to development of economically viable therapeutics. For example, 25% of autosomal dominant retinitis pigmentosa is caused by over 100 different mutations within the gene encoding rhodopsin, each of which could require a unique gene therapy. We describe here an RNA interference (RNAi)-based mutation-independent approach, targeting as an example murine rhodopsin. Native transcripts are suppressed by a single RNAi molecular species, whereas transcripts from replacement genes engineered at degenerate third-codon wobble positions are resistant to suppression. We demonstrate suppression of murine rhodopsin transcript by up to 90% with full concomitant expression of replacement transcript and establish the validity of this approach in cell culture, retinal explants, and mouse liver in vivo.

BackgroundTo date, the rare disease research community is largely fragmented in Ireland without a coherent programmatic focus. All too often, priorities for research are decided by one group of stakeholders. The James Lind Alliance (JLA) model allows us to challenge this dynamic through the Rare Disease Research Partnership (RAinDRoP) Workshop which will enable clinicians, patients and carers to work together to identify and prioritise uncertainties that could be answered by research. The RAinDRoP is a truly collaborative effort in which everybody has a voice, and it refocuses the research on the patients rather than the disease.ObjectivesTo identify and prioritise topics and questions in the three research areas: (1) Route to Diagnosis (2) Living with rare diseases (3) Integrated care or Holistic care.DesignA modified nominal group technique.SettingRepublic of IrelandParticipantsAnyone with experience of care for patients with rare diseases including patients, carers and healthcare professionals.ResultsThis workshop is scheduled to take place on the 04th of April 2019. The result is not available at the time of submission.ConclusionsThis study is the first national prioritisation exercise to identify patient and healthcare professional priorities for rare diseases research. The research priority partnership will identify a range of important gaps in the existing evidence to inform (1) Pathway to Diagnosis, focusing on facilitating early, accurate diagnosis and the communication/informational challenges associated with a rare disease diagnosis (2) Supporting management and self-management of rare disease and (3) Integrated care pathways.

Objectives Epidermolysis bullosa (EB) is a rare, genetic skin condition that is complicated, distressing, and painful and permeates every aspect of patients’ lives. Support services are essential for meeting the primary needs of patients and families living with EB; however, provision is challenged by many complex issues. In collaboration with the patient organization DEBRA Ireland, this research conducted an in-depth analysis of Irish healthcare support services for EB, with a view to moving towards an improved and sustainable care pathway. Methods A sustainable community of practice model (SCOP), as a core construct provided a simplified framework when studying this complex system. The research utilized mixed methods, comprising individual interviews, questionnaires, and a participatory action research workshop based on a soft systems approach. The study engaged patients, family members, service providers, and policy developers. Results Findings emphasized that the complexities of life with EB are more than ‘skin deep’. The lived experience of stakeholders revealed many levels of emotion, both positive and heart-rending. Despite the positive efforts of specialists in this field, inadequacies to meet the primary needs of people with EB, such as bandages—fundamental for survival—were highlighted. Participants reported challenges relating to understanding patients’ needs, access to consistent services within hospitals and the community, time constraints, and the strong emotions evoked by this severe and rare disease. Conclusions The study identified several areas that can be targeted to bring about improvements in meeting primary needs. Education and research at public, policy, and practice levels need to be prioritized. It is imperative that citizens move beyond an awareness that EB exists and demonstrate a consciousness about the importance of advocating and enabling seamless and sustainable support services through collective action.

Glaucoma describes a clinically and genetically heterogeneous group of diseases that result in optic neuropathy and progressive loss of visual fields. A gene for juvenile onset primary open angle glaucoma JOAG) has recently been mapped to 1q21-31. Mutations in the trabecular meshwork induced glucocorticoid response gene (TIGR, also known as myocilin or the GLC1A locus) have been found to cause both juvenile and later onset primary open angle glaucoma. Family TCD-POAG1 is a Spanish kindred, which segregates JOAG in an autosomal dominant fashion. This family was found to be linked to the previously identified GLC1A locus on chromosome 1q. Direct sequencing of the TIGR/myocilin gene showed a heterozygous A to C transition in codon 380, resulting in the substitution of alanine for aspartic acid (Asp380Ala). This substitution created a StyI restriction site, which segregated with the JOAG phenotype and permitted rapid screening of all members of the family. This restriction site was not present in 60 controls.