Mapping Cyprus’ DNA

Understanding the genetic blueprint of a population is one of the central challenges of modern biomedical science. In Cyprus, this effort is being led by biobank.cy Center of Excellence for Biobanking and Biomedical Research at the University of Cyprus. By systematically studying the island’s genetic landscape, the Center aims to improve human health and advance the prevention, diagnosis, prognosis and therapy of diseases. At the same time, it is laying the scientific foundation for the future of personalised medicine in Cyprus.

A national infrastructure for biomedical research

At the heart of the initiative is Cyprus’s first nationally approved biobank, a state-of-the-art biomedical research infrastructure accredited by the Cyprus National Bioethics Committee and operating in full compliance with the European Union’s General Data Protection Regulation (GDPR).

A biobank is more than a storage facility. It is a carefully curated repository of biological samples, primarily DNA, combined with anonymised medical and demographic data collected from volunteers who provide informed consent. These integrated datasets allow scientists to investigate how genetic variation influences disease risk, progression and treatment response.

To date, more than 12,000 volunteers of different ages, nationalities and communities across the island have contributed to the Biobank. This makes it one of the largest coordinated biomedical research initiatives ever undertaken in Cyprus.

The resulting collection of biological samples and health information supports a growing number of research projects examining both rare and common diseases. Insights derived from these studies are expected to lead to earlier diagnosis, more targeted therapies and improved healthcare outcomes for current and future generations.

The biobank.cy CoE operates through a comprehensive ecosystem designed to connect research, healthcare and innovation. Its activities are structured around five core pillars:

• Biobank for the secure collection and storage of biological samples and data,
• Molecular Medicine Research Center, the scientific research arm of the Center,
• Molecular Diagnostics Laboratory, providing advanced diagnostic services to clinicians and patients,
• Education hub, supporting training and scientific capacity building, 
• Innovation hub, facilitating collaboration with industry and translation of discoveries into practical applications.

Together, these components create a powerful platform for biomedical discovery while strengthening Cyprus’s research and healthcare ecosystem.

The CYPROME project: decoding the architecture of Cypriot DNA

A cornerstone of the Center’s research activity is the Cyprus Human Genome Project (CYPROME), an ambitious population-genomics initiative designed to build a reference genome for the Cypriot population.

The project focuses on whole-exome sequencing, which analyses the regions of DNA that encode proteins. Although these regions represent only about 1–2% of the human genome, they contain a large proportion of genetic variants linked to inherited diseases and many complex health conditions.

So far, the Center’s scientific team have analysed genomic data from 1,446 Cypriot participants, providing the first comprehensive population-level picture of the island’s genetic architecture.

Early findings have already produced results with important implications for healthcare systems and public health policy. Researchers discovered that approximately 5% of individuals carry medically actionable genetic variants—DNA alterations associated with diseases for which preventive measures, monitoring strategies or treatments already exist. In total, scientists identified 42 actionable variants, including four variants unique to Cyprus and 19 significantly enriched in the Cypriot population.

Many of these variants are linked to cardiovascular disorders and hereditary cancers, involving genes such as LDLR, PALB2, RYR1 and HNF1A. Notably, around 60% of individuals carrying actionable variants reported clinical features consistent with the expected disease traits, reinforcing the real-world relevance of these genetic findings.

The data also point to the presence of founder effects, where certain genetic variants become more common within a population due to historical demographic events. 

The project continues to expand, with all genomic data generated using harmonised international standards to ensure security, comparability and compatibility with global research initiatives.

Why population genomics matters

The scientific rationale behind the CYPROME project is both straightforward and powerful: without understanding the baseline genetic variation within a population, interpreting genetic information in clinical practice becomes significantly more difficult.

Scientists often encounter DNA changes whose clinical significance is uncertain. If a variant has not been documented within a specific population, it may be incorrectly classified as disease-causing when it is benign—or overlooked when it carries real clinical risk.

Smaller populations, such as that in Cyprus, are frequently underrepresented in global genomic databases, increasing the likelihood of such misinterpretations.

By systematically mapping genetic variation across the Cypriot population, researchers are establishing a reliable genetic baseline. This reference allows clinicians and scientists to distinguish between normal population diversity and mutations associated with disease.

Despite being an island, Cyprus’s long and complex history—situated at the crossroads of Europe, Asia and Africa—has contributed to a distinctive genetic profile that makes population-specific genomic research particularly valuable.

Understanding genetic predisposition to conditions such as cardiovascular disease, diabetes and cancer and how genes interact with environmental factors, can help researchers and policymakers design more effective prevention strategies and targeted healthcare interventions.

In this way, the work of biobank.cy CoE bridges genomic science, clinical medicine and national health policy, helping move healthcare beyond a one-size-fits-all model toward data-driven, personalised medicine tailored to the Cypriot population.

A national effort with global impact

The CY-Biobank project receives funding from the European Union's Horizon 2020 research and innovation programme, under grant agreement No. 857122, together with contributions from the Republic of Cyprus and the University of Cyprus.

As the dataset grows, it will become an increasingly valuable resource not only for national healthcare, but also for the international scientific community. Population-specific genomic data from underrepresented regions, such as the Eastern Mediterranean, provide crucial insights that help improve the accuracy and inclusiveness of global biomedical research.

In mapping the DNA of its population, Cyprus is doing more than cataloguing genetic variation. It is building a foundation for health innovation, scientific excellence and more precise medicine, benefiting both the island and the broader field of genomic science.