Gianpiero Cavalleri, Professor at RCSI University of Medicine and Health Sciences is co-leading Ireland’s participation in the newly launched Genome of Europe (GoE), the largest EU-funded population genomics initiative to date.

The initiative brings together 49 partner institutions across 27 countries with the aim of creating a pan-European reference of at least 100,000 whole genomes representing the diverse genetic make-up of populations across the continent. The landmark project is supported by €45 million in funding, including €20m from the EU’s Digital Europe Programme, alongside national investments.

Ireland’s role in this international effort will be driven through the newly launched Genome of Ireland (GoI), co-led by Professor Gianpiero Cavalleri at RCSI and Professor Russell McLaughlin at Trinity College Dublin. The GoI aims to sequence the genomes of 1,200 consenting individuals, ensuring that the genetic diversity of the Irish population is well-represented in the effort to build the European reference genome. The project will be driven by a national collaboration, bringing together a cross-institutional team of co-applicants from RCSI, Trinity College Dublin, Maynooth University, the University of Galway, and the University of Limerick, alongside members of the public.

Strategic importance and national commitment

The Department of Health is fully committed to supporting this Europe-wide initiative, providing funding via the Health Research Board (HRB), which is supporting the RCSI to deliver the GoI project.

Minister for Health Jennifer Carroll MacNeill said: “I am pleased to welcome Ireland's participation in the Genome of Europe project. This initiative marks a significant milestone in advancing medical research and improving public health. By contributing to the establishment of the first European reference genome, we are paving the way for groundbreaking advancements in personalised medicine, disease prediction, and prevention.”

Professor Cavalleri, Professor of Human Genetics at RCSI and Deputy Director of the FutureNeuro Research Ireland Centre, said: “The Genome of Ireland is an exciting, public-led initiative designed to deepen our understanding of the causes of rare diseases and enhance genetic diagnosis for the Irish population and beyond. We will invite participation from across the island of Ireland to build a comprehensive picture of genomic variation among people living here.”

A patient-led and clinically focused approach

The GoI is grounded in a public-led approach, with a strong emphasis on public and patient involvement (PPI). This ensures that the project’s governance, consent processes, and ethical frameworks are shaped by the people it aims to benefit. Work will include improving rare disease diagnosis and building the infrastructure needed for personalised medicine, while addressing the ethical and societal issues surrounding genomic research.

Nuala Ryan, a PPI contributor and co-applicant, commented: “I am very excited to be part of the Genome of Ireland and the wider Genome of Europe project. These initiatives represent a unique opportunity to involve the Irish public in shaping genomic research, ensuring their voices are heard at every stage. By prioritising active public involvement, we can create a trusted and inclusive resource that not only drives advancements in public health and research but also opens the door to meaningful discussions about the future of genomics. On a personal level, I am deeply passionate about this work, as it holds the potential to transform rare disease diagnosis – a cause that is very close to my heart.”

Dr Ed Gilbert and Dr Laura Whelan, RCSI School of Pharmacy and Biomolecular Sciences are also co-applicants on the project.

The initiative aims to bridge the gap between discovery and patient care by aligning research investment with clinical priorities. By focusing on strategic infrastructure development – including genomic data analysis, and clinical integration pathways – the project is poised to transform healthcare delivery in Ireland.

The GoI will work closely with key stakeholders, including IPPOSI, Health Research Charities Ireland, University College Dublin, Children’s Health Ireland, the National Genetics and Genomics Office, the University of California, Ulster University, the Research Ireland Centre for Research Training in Genomics Data Science and the FutureNeuro Research Ireland Centre for Translational Brain Science.

Genomic research is transforming modern medicine by offering new insights into disease causes and enabling the development of targeted treatments. Ireland’s contribution to the GoE ensures these efforts promise lasting benefits for patient care in Ireland and beyond.

For further information on the Genome of Ireland, please visit: genomicdata.ie/about or email genomeofireland@rcsi.ie.