Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clinical genetics outpatient appointments, during the study period, were up to two years as staffing levels remain low. A targeted public online survey was conducted in January 2022 to capture the experiences of Rare Disease families trying to access genetic testing and clinical genetic clinics in the Irish Republic.

What are the information needs of people with dementia and their family caregivers when they are admitted to a mental health ward and do current ward patient information leaflets meet their needs?

Introduction: An admission to a mental health ward is an uncertain and unexpected part of a person's journey with dementia and consequently, families require information about what to expect and how to prepare. This study aimed to establish the information needs of people with dementia and their families at the point of admission to a mental health ward and to collate existing ward information leaflets to explore if they meet these information needs.

Methods: This research was conducted in two parts: (1) a qualitative study using focus groups, one with people with dementia and family carers with lived experience of such an admission (n = 6), and another with Admiral Nurses (n = 6) to explore information needs at the point of admission.

Designing rare disease care pathways in the Republic of Ireland: a co-operative model.

Background: Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways.

Methods And Objectives: This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology.

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

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.

Making tuba in the Torres Strait Islands: the cultural diffusion and geographic mobility of an alcoholic drink.

There is relatively scant evidence of the Indigenous production and consumption of intoxicating drinks on the Australian mainland prior to the arrival of outsiders. Although Australian Aboriginal peoples had mastered fermentation in some regions, the Indigenous manufacture of much stronger drinks by distillation was unknown on the Australian mainland. However, following contact with Pacific Island and Southeast Asian peoples in the 19th century, Islanders in the Torres Strait adopted techniques for fermenting and distilling what became a quasi-indigenous alcoholic drink known as tuba.