Complement Inmunopathology Lab
Pathophysiology and Therapy of Immune and Inflammatory Diseases
Hospital Universitario La Paz
DESCRIPTION OF THE OFFER
Dysregulation of the Complement alternative pathway is a major pathogenic mechanism in rare and severe renal diseases such as atypical Haemolytic Uraemic Syndrome (aHUS) and C3 glomerulopathy (C3G), and patients carrying mutations and/or risk variants in Complement genes should be identified as soon as possible to benefit from specific treatments.
By using a proteomics-to-genomics strategy, we have identified splicing variants and abnormal forms of the complement factor H/FHRs proteins in aHUS and C3G patients from our cohorts. In this project, we want to purify and functionally characterize these variants to determine their pathological relevance. We also want to analyse the role of quantitative fH/FHRs variants in the genetic susceptibility to aHUS and C3G, by using an in-house SRM/Mass Spectrometry assay.