Approximately one third of HRCI members represent patients with rare diseases. While there are over 6,000 documented rare diseases, taken together it is not unusual to be affected by a rare disease. Such conditions are extremely variable in how they affect a person but people living with rare diseases have many challenges in common. These include a lack of research into their condition, lack of medical expertise, lack of treatments or cures and, often, social isolation.
For these reasons, rare diseases need particular attention and the HRCI is committed to improving all aspects of research into rare diseases. We do this in the following ways:
- By sitting on the Steering Group of the Rare Disease Forum (an evolution of the Rare Disease Taskforce).
- By leading on one Rare Disease Forum event a year, focused on research.
- By running the Joint Funding Scheme, in partnership with the Health Research Board, which is the only national funding scheme through which all forms of rare disease research can be funded.
- By supporting our rare disease member organisations in their research activities, including patient and public involvement (PPI).
- By running the Irish Health Research Forum which frequently focuses on themes of importance to people living with rare diseases e.g. genomics research, the protection of health data and collaboration in research between hospitals and academic centres.
- Through meetings with the Department of Health and politicians, attended with Rare Disease Taskforce colleagues. Together we were successful in achieving a number of rare disease objectives in the 2020 Programme for Government.
- By contributing to annual Rare Disease Day initiatives.
- By supporting rare disease publications, such as The Easy Guide to Rare Diseases and Consensus for Action
- By working with the wider rare disease research community in Ireland e.g. the Rare Disease Research Partnership (RAinDRoP) and through occasional partnership with EURORDIS, Rare Diseases Europe.
While we show this commitment in the hope of improving the lives of those affected by rare diseases through research, we have also observed that much innovation in research comes from what rare diseases teach us and from the very dynamic rare disease community. Therefore, all aspects of health research benefit from our involvement with rare diseases.