European Network for the Study of Orphan Nephropathies
In this proposal, we have mobilized a critical mass of expertise to investigate, on a Europe-wide scale, the natural history and pathophysiology of rare inherited diseases affecting important structures of the kidney. The project...
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Descripción del proyecto
In this proposal, we have mobilized a critical mass of expertise to investigate, on a Europe-wide scale, the natural history and pathophysiology of rare inherited diseases affecting important structures of the kidney. The project will use and develop multiple models (in vitro and in vivo) with the aim to develop preventive, diagnostic and therapeutic interventions that should alleviate the burden of these diseases, particularly in children. A central part of the proposal is the creation of a European registry and a network of genetic laboratories to foster a tight interaction between physicians and researchers, promote clinical and basic research, and ensure the efficient dissemination of knowledge. By increasing our knowledge of these rare diseases, the EUNEFRON project will also yield new insights into basic processes relevant for the general population (progression of renal disease, blood pressure control, prevention of renal stones, effect of gender and ageing, etc…), the complex relationship between different nephron segments, and the multi-systemic involvement of renal diseases.