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Structural approach to the molecular basis of two rare kidney diseases

15th National Programme for the allocation of Research Grants for Life and Matter Sciences

Rare diseases

Senior Researcher : Óscar Llorca Blanco

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Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)

Abstract

The complement system plays a critical role in innate immunity and its deregulation leads to serious rare diseases due to a lack of treatments, such as dense deposit disease (DDD) or atypical haemolytic uraemic syndrome (aHUS). This project aims to combine genetic, biochemical and structural studies to resolve the mechanisms regulating complement system activation. Resolved structures will allow the identification of critical regions in the assembly and regulation processes, which will help explain the mutations found in patients as well as facilitate the design of compounds to prevent or reduce tissue damage caused by uncontrolled activation of the complement system.

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