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Integrative metabolomics and genomics analysis for the development of markers of inherited kidney diseases: a personalised medicine approach

Project description

Metabolomics and genomics analysis for rare kidney diseases

Rare inherited kidney diseases (RIKDs) are a group of heterogeneous disorders that often lead to renal replacement therapy, severely compromising patients' quality of life. The EU-funded MODIRen project aims to address the lack of biomarkers for disease diagnosis, prognosis and therapy. Researchers will perform whole exome sequencing to identify genetic variants and adopt a deep-phenotyping approach to determine disease-specific metabolic markers. Alongside clinical information, this data will provide genotype–phenotype signatures and help delineate RIKD pathophysiology. The project's results will serve as the basis for improving clinical diagnostics and patient stratification as well as for designing theranostic tools.


Rare inherited kidney diseases (RIKDs) encompass over 150 different conditions. They often lead to patients requiring renal replacement therapy being a major cause of end stage renal disease, severely compromising the patients’ quality of life and posing a high financial burden in healthcare. They are characterised by a high degree of phenotypic heterogeneity and by the absence of biomarkers for disease diagnosis, prognosis and inadequate therapeutic management. The main aim of the proposed work is to develop new disease ontology for three RIKDs (Thin Basement Membrane nephropathy, CFHR5 nephropathy and MUC1 kidney disease) using a deep-phenotyping approach. Phenotypic and genetic data will be integrated for biomarker discovery and to provide new knowledge for the development of a novel theranostic tool. Whole exome sequencing (WES) of cases and controls is currently underway at the host for the identification of relevant genetic variants. Using a dual biofluid-dual platform approach to maximise metabolome coverage, the metabolic profiles of healthy individuals will be compared to those of RIKD patients to identify disease-specific metabolic markers. Rigorous data analysis methodologies will be employed to integrate WES, metabolomic and clinical data for the identification of robust composite genotype-phenotype signatures of the diseases. These will elucidate molecular disease pathomechanisms, enabling better clinical diagnostics and improved patient stratification. The proposed work will provide a vital genotype-phenotype framework from which future theranostic tools can be more precisely designed and evaluated, towards precision medicine. The proposed research and training program will complement the applicant’s skills in metabolomics and systems biology with the host’s expertise in genomics and molecular diagnostics to enhance her professional maturity and facilitate new international research and innovation initiatives and multidisciplinary collaborations.


Net EU contribution
€ 145 941,12
1678 Nicosia

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Κύπρος Κύπρος Κύπρος
Activity type
Higher or Secondary Education Establishments
Total cost
€ 145 941,12