i3S to create Portugal’s first Centre of Excellence in Genomic Medicine with €36 million
i3S will establish Portugal’s first Centre of Excellence in Genomic Medicine as part of the i3S‑Health project, which has been selected under the Horizon Europe Teaming for Excellence programme, one of the European Commission’s most competitive initiatives.
Total funding amounts to €36 million — €15 million from the European Commission, €15 million from the Portuguese Government and €6 million in private investment — and will enable the creation of a European reference infrastructure for innovation and excellence in genomic health research, with long‑term impact on science and sustainable healthcare.
i3S‑Health will give rise to a state‑of‑the‑art Genomic Medicine Centre, integrating next‑generation DNA sequencing, computational biology, artificial intelligence‑driven bioinformatics and high‑throughput functional genomics. The goal, explains Claudio Sunkel, Director of i3S, “is to accelerate the discovery of new pathogenic genetic variants with an impact on healthcare, through more accurate and personalised diagnostics”. “This will be the first multidisciplinary platform in Portugal to structurally link advanced genomic research with clinical practice, bringing research and diagnosis closer together,” he adds.
Genomic medicine is transforming healthcare systems by enabling more precise and personalised approaches. However, Portugal still faces significant challenges, including limited sequencing capacity, fragmented clinical applications and a shortage of highly specialised human resources.
i3S‑Health aims to address these challenges by modernising i3S and positioning it as a European‑scale Centre of Excellence in Genomic Medicine. The project will be developed under the guidance of the European Molecular Biology Laboratory (EMBL), in close collaboration with its European Bioinformatics Institute (EMBL‑EBI), a central infrastructure within the Genomics England data ecosystem in the United Kingdom.
The consortium also includes national partners such as Ipatimup Diagnósticos and CGPP‑IBMC, strengthening the link between research and clinical diagnostics. The project also foresees strong integration with the healthcare system, with the support of several leading Local Health Units (ULS) in the Northern region of Portugal.
This collaboration with the ULS forms part of the strategy that i3S has been developing to make genomic medicine a reality in Portugal and was, in fact, the basis for recent funding awarded by CCDR‑N to implement a Northern Precision Medicine Centre, which effectively represents the seed of this new Centre of Excellence in Genomics. “This approach is based on a fundamental principle: ensuring that medical genomics technologies are used widely and that access is equitable, regardless of where patients receive care,” emphasises Claudio Sunkel.
Among the main expected outcomes of the i3S‑Health project are increased diagnostic capacity and accuracy, the training of new specialists, the development of predictive algorithms for complex genetic diseases and the identification of multi‑omics biomarkers with clinical application.
The project also envisages strong engagement with industry through public–private partnerships for the co‑development of new diagnostics and therapeutics. The initiative’s sustainability will be ensured through the expansion of advanced diagnostic services, strategic partnerships, new projects, intellectual property development and the creation of spin‑offs in the field of genomics.
