Complement Immunopathology Laboratory
Institute for Health Research. Hospital Universitario La Paz.
Paseo de la Castellana, 261 28046 Madrid
Principal Investigator: Pilar Sánchez-Corral Gómez
Project Staff: Mª Elvira Bernabéu Herrero
Dr. Pilar Sánchez-Corral Gómez joined HULP in February 2002, where she leads the Complement Immunopathology Laboratory at the Research Unit. We perform translational research aimed to improving the molecular diagnosis and treatment of renal diseases where there is a prominent role of the Complement system, and as such we are also part of the IdiPAZ research group 21 (Diagnosis and treatment of diseases associated with abnormalities of the Complement system). We carry out studies in patients to identify Complement defects of likely pathological relevance. Some time ago we set up a protocol for the genetic and molecular study of Complement in Haemolytic Uraemic Syndrome (HUS) patients, with the collaboration of Dr. Margarita López Trascasa and Professor Santiago Rodríguez de Córdoba. This protocol, unique in Spain, includes immunological, biochemical and genetic studies, and has already been applied in more than 350 HUS patients and in 70 patients with glomerulopathies. Our results have provided genotype-phenotype relationships of great clinical value, and they have also contributed to collaborative studies with other european cohorts of HUS patients.
Our main scientific contributions have been done in HUS patients presenting abnormalities in the complement regulator factor H, the group of patients having the worst prognosis. Our initial observations, revealing the presence of mutations that generate unfunctional factor H, were determinant for understanding the pathogenic mechanism of HUS at a molecular level, and resulted in the development of an “in vitro” assay for the functional screening of factor H mutations. We have also purified and characterized anti-factor H autoantibodies present in some HUS patients. In the last years we have developed an innovative proteomics-to-genomics strategy for the study of the Factor H-Related Proteins (CFHRs) in HUS and other renal pathologies. Our results have shown the presence of mutations and polymorphisms in these proteins that are associated to these diseases, and they have also generated tools for their molecular diagnosis in a clinical setting.