CY-NEPHRON

Cyprus Genome Project and Nephrogenetics

It is estimated that in Cyprus the incidence of kidney failure is 284 per million population (pmp). This is considered high and certainly it is higher than in other European countries such as the UK-England (122 pmp). Austria (135 pmp), neighbouring Turkey (151 pmp) or the island of Iceland (108 pmp). Similar observations hold for the Cypriot community in London, where Cypriots comprise 6% of the 2,000 patients receiving renal replacement therapy at the Royal Free Hospital, while they account for around 3% of the catchment population. These observations for Cypriots in London and Cyprus support that genetic elements contribute to the increased burden of kidney disease.

To address these concerns and satisfy unmet needs we proposed the following objectives:
a) Enrichment of the NephroBiobank created through previous seed funding, via enrolling 1000 new patients with chronic kidney disease (CKD).
b) Generation of the Cypriot genome by whole genome sequencing of 250 subjects, 150 healthy plus 100 archived patients with familial hematuria who remain undiagnosed.
c) Whole exome sequencing of 500 family trios of CKD patients who remain undiagnosed either on renal replacement therapy or transplanted.
d) Identification of early biomarkers in urine, potentially useful for the diagnosis and prognosis of kidney patients well before kidney function decline is evident.

This project is in line with the Smart Specialization Strategy of the government of Cyprus. The project was compatible with the Cyprus Research and Innovation Foundation call as it capitalized on new technological advancements and innovative approaches in addressing the important issues of quality of life and clinical unmet needs. Collaborators were nephrologists of the public and private domain, the Cyprus Association of Kidney Patients’ Friends, Novamechanics-a private SME specializing in Bioinformatics and new product development, and Regeneron, a pharmaceutical company in New York, USA.

Despite the challenges faced from the start because of the COVID-19 pandemic that ensued only a few months after the project was launched, all objectives were achieved and even more. Nearly 1000 patients with chronic kidney disease were enrolled in the Biobank and genomic studies generated useful information regarding the heritable burden of the Cypriot population.