Cyprus Genome Project and Nephrogenetics
It is estimated that in Cyprus the incidence of kidney failure is 204 per million population (pmp). This is considered high and certainly it is higher than in other European countries such as the UK-England (116 pmp). Austria (122 pmp), neighbouring Turkey (147 pmp) or the island of Iceland (58 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 propose 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, a Low-Performing RDI EU Member-State. The project is compatible with the Cyprus Research and Innovation Foundation call as it will capitalize on new technological advancements and innovative approaches in addressing the important issues of quality of life and clinical unmet needs. Collaborators are the Ministry of Health and nephrologists of the public 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 the USA.
Cyprus Genome Project and Nephrogenetics – CY-NEPHRON
Project Life Span: 3 years
Other team members:
Alkis Pierides, MD
Michael Zavros, MD
Kyriakos Ioannou, MD, PhD
Isavella Savva, MD, PhD Cand.
Avraam Elia, MD
Gregory Papagregoriou, PhD
Christiana Polydorou, PhD
Apostolos Malatras, PhD