Presentación
DIAGNOSIS AND TREATMENT OF DISEASES ASSOCIATED WITH ABNORMALITIES OF THE COMPLEMENT SYSTEM
alteracionesdelsistemadelcomplemento@idipaz.es
Composition
Name
Position
Institution
Investigador "Ad honorem"
Profesora de la Facultad de Medicina
IdiPAZ
Universidad Autónoma de Madrid
Investigadora Senior (Contrato Miguel Servet - I2). Jefe de Laboratorio
Hospital Universitario La Paz
Fernando Corvillo Rodríguez
Investigador postdoctoral
Hospital Universitario La Paz
Laura Espinosa Román
Jefa de Servicio Nefrología Pediátrica
Hospital Universitario La Paz
María del Rosario García Sánchez
Investigadora predoctoral
FIBHULP
Laura González Sánchez
Investigadora postdoctoral
Hospital Universitario La Paz
Alberto López Lera
Investigador Postdoctoral. Contratado CIBERER
Hospital Universitario La Paz
Marta Melgosa Hijosa
Facultativo Especialista de Área en Nefrología Infantil
Hospital Universitario La Paz
Pilar Nozal Aranda
Facultativo Especialista de Área en Inmunología. Investigadora Postdoctoral
Hospital Universitario La Paz
Strategic Objective
This is a national reference group for the study of primary or acquired defects in the complement system. The main aim is to gain an understanding of the molecular mechanisms underlying in complement deficiency or dysregulation in several human diseases, the majority of which are classified as rare diseases. In this context, the group implements and applies various methodological strategies (immunological, biochemical, proteomic and genetic) to detect clinically relevant deficiencies or functional defects in complement components. By following a clearly translational approach, the group also develops new diagnostic tests which are implemented in the clinical practice, especially for treatment adjustment and patient follow-up. The research lines could be classified as: screening and characterization of genetic or acquired complement defects that cause renal pathology (I), functional and molecular diagnosis of deficiencies affecting individual components of the complement system (II), diagnosis and molecular studies in Hereditary Angioedema and screening for disease modifying genes (III), study of pathogenic mechanisms in acquired lipodystrophies (IV).
Research Lines
• Screening and characterization of genetic and acquired Complement defects in renal disease.
• Biochemical and molecular diagnosis of isolated Complement deficiencies.
• Screening and molecular characterization of disease modifying genes in Hereditary Angioedema.
• Genetic and immunological mechanisms associated with Complement dysregulation in partial lipodistrophy.