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HRB - Advancing rare disease research

To celebrate International Rare Disease Day, the Health Research Board (HRB) highlights its support and investment for Rare Disease research. This includes funding new initiatives to ensure Ireland is well positioned to participate in, and conduct, research to tackle rare diseases and improve the many lives affected by them.

I support rare disease day 2024 logo

In recent months the HRB has: -

  • invested in a Rare Disease Catalyst Award to enable greater levels of rare disease research and innovation in Ireland 
  • co-ordinated Irish engagement within the European Rare Diseases Research Alliance, which will align and deliver a robust European Rare Disease research ecosystem to underpin patient needs 
  • participated in the National Rare Diseases Steering Group to develop a rare disease plan for Ireland.

These initiatives build on the HRB’s €17 million research investment* over the past 10 years, which aims to deliver better quality care and treatment for people with rare diseases.

According to Dr Mairéad O’Driscoll, Chief Executive at the HRB,

“International Rare Disease Day shines a light on the value and impact of research for people living with rare diseases. Our history of collaboration and investment in this area highlights the importance of co-ordination to ensure faster scientific progress by improved use and sharing of data and resources”.

Rare diseases are collectively common. It is estimated that approximately 300,000 people in Ireland are living with a Rare Disease. There are over 8,000 known rare disease types, however many more which are impacting people and their families, have not been scientifically identified due to their rarity.

More detail about our recent investments and collaborations in this area are outlined below.

 

Rare disease research and innovation catalyst award

In December 2023, the HRB invested €3 million in a Rare Disease Research & Innovation Catalyst Award (RDCat). It aims to maximise value from the EU Rare Diseases Partnership and enable greater levels of Rare Diseases research and innovation in Ireland. Led by Professor Rachel Crowley, University College Dublin, this multi-institutional, national consortium of Rare Disease experts will ensure that Ireland is in prime position to engage in Rare Disease research activities and in particular the European Rare Disease Research Alliance through a strategic coordinated approach.

The RDCat award, brings together Rare Disease clinicians, researchers, data scientists, allied health professionals and patients under a single research award to increase Irish engagement with national and international networks including the Rare Disease Clinical Trials Network and European Reference Networks. (The latter are specialist expert groups where Rare Disease cases and treatment plans, with the patients’ consent, can be reviewed with international experts for advice).

Oonagh Ward, Head of Research and Innovation Infrastructures at the HRB said “this catalyst and innovation award will boost Ireland’s participation in international partnerships and provide access to knowledge, insights and opportunities that could not be delivered by Ireland alone.”

 

Participation in the European Rare Diseases Research Alliance

In January 2024, the European Commission approved€56 million for the European Rare Diseases Research Alliance (ERDERA) for seven years. (ERDERA was formerly called the European Rare Disease Partnership).
Throughout 2023 the HRB actively engaged with both the Rare Diseases research community in Ireland and the National Rare Diseases Office to participate in an application for the ERDERA proposal.
The HRB and associated partners in Ireland will now participate in ERDERA working alongside 171 international partners from 35 countries, including 38 funders, 115 research performing organisations, 12 patients’ organisations, 3 research infrastructures, and 27 private for-profit partners.

ERDERA aims to deliver a robust Rare Disease research ecosystem supporting patient need-led research, developing new diagnostic methods and pathways, spearheading the digital transformational change, and connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in Rare Disease research across countries and regions.

Oonagh Ward adds,

“The RDCat award, in conjunction with existing HRB investments across Rare Disease research will prime Ireland’s abilities to participate in and deliver ERDERA’s vision. ERDERA will impact Rare Disease patients across Europe and around the world.  Collectively they will increase capacity, collaboration and integration of ideas to improve lives of rare disease patients in Ireland and internationally.”

 

National Coordination and planning for rare diseases

The HRB is also a member of the National Rare Diseases Steering Group recently established by the Minister of Health and will actively contribute to the development of a new Rare Disease Plan for Ireland. The plan, which is due in late 2024, aims to address the gaps in Rare Diseases services to ensure that patients and their families receive the right care, at the right time, in the right place.

Ms Ward concluded,

“As we celebrate International Rare Disease Day, we can be optimistic that our investment and collaboration in this area will mean Irish people living with rare diseases will benefit from both national and international advances in research.”


Notes for editors

* HRB investment in rare disease research over the past decade

 

HRCI-HRB Joint Funding Scheme

The HRB has operated a joint funding scheme since 2006 with Health Research Charites in Ireland (HRCI). This scheme funds internationally competitive and innovative research in areas of strategic relevance to HRCI-registered research charities. It has proven to be an important funding avenue for rare disease research, accounting for approximately €7M of the HRB spend in rare diseases in the last 10 years. The Government (via HRB) investment in this scheme is up to €1M per year, and this is matched by the charities. Separate from the joint funding scheme with the charities, the HRB also supports rare disease research through a selection of research career awards, EU research projects, events and contributions to the core work of HRCI and The Irish Platform for Patient Organisations, Science and Industry (IPPOSI). 

 

The Rare Diseases Clinical Trial Network (RDCTN) 2022

A five-year investment of €1 million was awarded to the RDCTN in April 2022, led by Professor Rachel Crowley and Dr Cormac McCarthy. The objective of the Clinical Trials Network in Rare Diseases is to act as a collaborative hub for trials in rare diseases, support the conduct of trials in rare diseases and increase the opportunities for patients to access high-quality clinical trials. The RDCTN continues to work with the European Reference Network (ERN) for Rare Diseases clinical sites to increase the availability of clinical trials for rare disease patients to participate in

 

Research and Innovation Catalyst Awards (RDCat) 2023

This call aimed to bring together all relevant stakeholders in a single award to ensure that Ireland is better placed to engage in rare disease research activities. A three-year investment of €3 million was awarded to the Rare Disease Research Catalyst Consortium in December 2023. The consortium is led by Professor Rachel Crowley, UCD and is made up of a group of Irish-based healthcare workers, researchers and patients. Although this project is in the start-up phase it aims to: 1) increase the influence of rare disease patients in RD research and policy 2) increase Irish engagement with national and international networks including the Rare Disease Clinical Trial Network and ERNs 3) build rare disease research activity and excellence in Ireland, enabling engagement with the upcoming European Rare Disease Partnership and 4) open and extend communications within Ireland and with international stakeholders to further these aims.  

 

Further information on the HRB’s key investments in Rare Diseases research:

European Reference Networks 

European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex and rare diseases and conditions that require highly specialised treatment.
The ERNs collaborate to review patients’ diagnosis and treatment through ‘virtual’ advisory panels of medical specialists across different disciplines, using a dedicated IT platform. They are also active in the areas of research, setting up registries, developing clinical guidelines, and sharing knowledge and expertise among health professionals and patient organisations.
The first 24 ERNs were launched in 2017, involving more than 900 highly specialised healthcare units from over 300 hospitals in 26 Member States. As of January 2022, more than 600 new highly specialised hospital units joined the system, bringing the total number of ERN members to almost 1500. For more information: Rare diseases - European Commission (europa.eu) 

 

Genomic Data Infrastructure (GDI)

The Genomic Data Infrastructure (GDI) project is enabling access to genomic and related phenotypic and clinical data across Europe. It is doing this by establishing a federated, sustainable and secure infrastructure to access the data. It builds on the outputs of the Beyond 1 Million Genomes (B1MG) project and is realising the ambition of the 1+Million Genomes (1+MG) initiative.

European Genomic Data Infrastructure (GDI) project (onemilliongenomes.eu)

 

European Partnership for Personalised Medicine

The European Partnership for Personalised Medicine (EP PerMed) aims to improve future healthcare for all citizens through personalised therapy, diagnosis and prevention.

EP PerMed - European Partnership for Personalised Medicine

 

About the Health Research Board

The Health Research Board (HRB) is Ireland’s lead public funding agency supporting innovative health research and delivering data and evidence that improves people’s health and patient care. We are committed to putting people first, and ensuring data and evidence are used in policy and practice to overcome health challenges, advance health systems, and benefit society and the economy.