While concrete results are pending, early progress suggests an anticipated significant socio-economic and medical impact from the diagnostic and research projects at the CoE, addressing unmet needs. Chronic kidney disease, affecting over 10% of the population, and inherited heart conditions, affecting about 1/200-250 individuals globally, are being systematically addressed for the first time through extended genetic testing, benefiting Cypriot patients and informing clinicians. The ongoing CYPROME project, having delivered nearly 3000 Whole Exomes of Cypriots, is yielding benefits.
Furthermore, the CoE's infrastructure and expertise are sought by colleagues from UCY and other universities, expanding visibility and participation in external research. Two major collaborations show promise: an expanded agreement with the Regeneron Genetics Center aims to offer over five thousand whole exomes of the general population and for various diseases, and a longstanding partnership with the Broad Institute on MUC1 kidney disease is progressing toward a clinical trial involving Cypriot patients. Finally, amongst others, a landmark publication (2025, in Press) in the best kidney journal, Kidney International, reflects the hard innovative work of colleagues at the CoE, in finding more effective treatments for Alport spectrum disease. This was the result of a preclinical trial in a mouse model for Alport syndrome.
In projecting into the near future, the analysis of the available exomes through the CYPROME project, is already delivering critical information on the genetic morbid anatomy of Cypriots. A diligent study of 1446 exomes with several in silico instruments, has revealed that more than 2.6% of Cypriots have inherited actionable pathogenic/likely pathogenic DNA variants, which upon their knowledge people can act for prevention or amelioration of symptoms and disease outcome.
Finally, the introduction of systematic genetic testing, as a center of reference for inherited kidney and heart conditions, already has shaped the field as many patients and families that remained undiagnosed for decades, are now finding a resolution and an end to their diagnostic odyssey, while also saving substantial funds to the government.
