MODIRen · Integrative metabolomics and genomics analysis for the development of markers of inherited kidney diseases: a personalised medicine approach
Horizon 2020 — Marie Skłodowska-Curie Actions
- Duration
- 2021-01-04 → 2023-01-03
- EU contribution
- €145,941
- Participants
- 1
- Scheme
- MSCA-IF
Lines connect the coordinator with its partners.
Results in brief
Integrative metabolomics and genomics analysis for the development of markers of inherited kidney diseases: a personalised medicine approach
The focus of MODIRen is on three rare inherited kidney diseases (RIKDs), namely Thin Basement Membrane Nephropathy (TBMN), CFHR5 nephropathy and MUC1 kidney disease. These RIKDs 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 MODIRen was to develop new disease ontology for these three RIKDs using a deep-phenotyping approach. Main objectives of the project: Metabolic profiling of urine and plasma samples from patients and healthy controls Integration of metabolomics data with orthogonal genetic and clinical data Facilitate the researcher's development into a leading expert in the field of metabolomics, as well as enable her to disseminate her expertise to research institutions, companies, and the public. Metabolic, genetic and clinical data were integrated for biomarker discovery and to provide new knowledge for the development of a novel disease management tools. MODIRen provided a vital genotype-phenotype framework from which these tools can be more precisely designed and evaluated, towards precision medicine. The project's results will serve as the basis for improving clinical diagnostics and patient stratification as well as for designing theranostic tools.
Data: CORDIS, © European Union
Project objective
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.
Original text from CORDIS.
Participants
- UNIVERSITY OF CYPRUS · NicosiaCoordinatorCyprus
Links
Data: CORDIS, © European Union