Rare Disease Research in Ireland: The State of Play

This piece by HRCI CEO, Dr Avril Kennan, appears in ‘An Easyguide to Rare Diseases in Ireland and Consensus for Action‘, published in February 2020, by the Rare Disease Taskforce.

For most rare diseases there is no cure and the management of symptoms can be very hampered by a lack of knowledge and by limited evidence. Rare disease research in Ireland is often driven by patients and their families or by clinical experts who see the immense needs first-hand. Most of our strongest research-focused rare disease charities are patient-led and there are also pockets of research excellence among the rare disease clinical community. Regardless of who the research is initiated by, there tends to be very strong patient involvement and the rare disease community have long demonstrated many of the principals of what is now formally referred to as PPI (patient and public involvement).

While not solely a funding channel for rare diseases, the Joint Funding Scheme, run in partnership by Health Research Charities Ireland (HRCI), previously known as the MRCG, and the Health Research Board (HRB), has proven to be an important funding avenue for rare disease research. This scheme is open to all 40 members of HRCI, of which approximately one third support rare disease research. Government investment in this scheme is up to 1M euro per year, which is matched by the charities, thereby facilitating the co-funding of competitive research projects. Since 2010, close to €10 has been invested by the HRB in rare disease research, the majority of which has been through the Joint Funding Scheme. This funding spans 12 rare diseases and the majority of the research falls into the category of applied biomedical, although any form of health research is fundable through the scheme.

Irish involvement in the 24 European Reference Networks (ERNs) for rare diseases will increasingly become a very important driver of research, through facilitating networks, the inclusion of the Irish population in patient registries and, in all likelihood, by opening up future funding avenues. In addition, patient impact from research will be facilitated through the development and implementation of the evidence-based clinical practice guidelines that will be developed within each of the ERNs. Following considerable effort by the National Rare Disease Clinical Programme and the Rare Disease Office, we are on track to see official Irish involvement in the majority of the ERNs in 2020.

Through the HRB, and together with 22 other countries, Ireland is participating in the European Joint Programme on Rare Diseases, opening the possibility for Irish scientists to collaborate on transnational, patient-focused projects. Only one of the projects awarded funding in 2019 included an Irish partner but perhaps that will increase in future calls. More locally, the UCD-led Rare Disease Research Partnership (RAinDRoP) has recently brought together many stakeholders with an interest in rare diseases, to prioritize and progress research in Ireland.

While there are many positives, challenges remain for research into rare diseases in Ireland. As highlighted at a meeting focused on rare disease clinical research, held by the Rare Disease Clinical Programme in 2018, protected research time and practical supports for clinicians to undertake clinical trials and other forms of clinical research remain a huge barrier. Clinical trials can give patients early, and sometimes the only, access to new and innovative therapies and so the Irish population are disadvantaged by this. There have been recent positive developments in this regard, with a first Action Plan for Health Research launched by the HSE in 2019, but it will remain a challenge to ensure a policy and practice focus on research, in the face of many immediate care needs.

The lack of a national strategy for genomics in Ireland, along with lack of support for patient registries are other major factors hampering Irish progress in rare disease research. A recent position paper by HRCI, entitled Research for a Healthier Ireland, highlights the need for progress in these areas, along with other important aspects of health research in Ireland relevant to rare diseases.

As we look to the future, more will be required to create formal and resourced rare disease research networks in Ireland and to facilitate our increased involvement in international networks. It will also important that we focus on research as a critical part of the solution for improved rare disease care, rather than treating it as a separate and less urgent endeavour.

Photo caption: Most of the Irish contingent at the European Conference for Rare Disease, Vienna 2018. The group includes many rare disease research advocates, including representatives from the Rare Disease Office, Cystinosis Ireland, Rare Diseases Ireland, Retina International, 22q11 Ireland, RAinDRoP, Fighting Blindness, HRCI, PTC Therapeutics, the National Clinical Programme for Rare Diseases, DEBRA Ireland, Friedreich’s Ataxia Research Alliance Ireland and Muscular Dystrophy Ireland. Photo credit: Dr Suja Somanadhan.