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Rare Diseases

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. 

Partnering with the Rare Disease Clinical Trial Network

The Rare Disease Clinical Trial Network was established in 2022, as a patient- oriented research network based within the University College Dublin (UCD) Clinical Research Centre, with the aim of increasing the quantity and quality of rare disease clinical trials in Ireland.

HRCI is proud to partner with UCD in hosting a PPI Liaison for the Network. The Liaison is responsible for expanding the involvement of patients, their families, and members of the public in the design and conduct of trials in rare disease. The role also involves developing a Rare Disease Patient Advocacy Group, delivering conferences for patients and investigators, and engaging with patient collaborators on development of new Patient Reported and Patient Centred Outcome Measures.

HRCI also work to support the rare disease community 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.
  • Supporting our rare disease member organisations in their research activities, including patient and public involvement (PPI).
  • Managing 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.
  • Participating in meetings with the Department of Health and politicians. Together with our colleagues, we were successful in achieving a number of rare disease objectives in the 2020 Programme for Government. 
  • Contributing to annual Rare Disease Day initiatives.
  • Supporting rare disease publications, such as The Easy Guide to Rare Diseases and Consensus for Action
  • 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.
  • In 2022, HRCI came together with Rare Diseases Ireland, the Northern Ireland Rare Disease Partnership, Rare Ireland, and the Irish Platform for Patient Organisations, Science and Industry to create the Rare Disease Forum. For two years, HRCI hosted an annual event with a strong research perspective.

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.