Presentación    
DIAGNOSIS AND TREATMENT OF DISEASES ASSOCIATED WITH ABNORMALITIES OF THE COMPLEMENT SYSTEM
Composition
Name
Position
Institution
Margarita López Trascasa
Facultativo Especialista de Área en Inmunología
Profesor Asociado de la Facultad de Medicina
Hospital Universitario La Paz
Universidad Autónoma de Madrid
Pilar Sánchez-Corral Gómez
Investigadora Senior (Contrato Miguel Servet - I2). Jefe de Laboratorio
Hospital Universitario La Paz
Fernando Corvillo Rodríguez
Investigador Predoctoral
Hospital Universitario La Paz
Sofía Garrido Herrero
Técnico de Laboratorio
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
Rocío Mena de la Cruz
Responsable de Laboratorio de Secuenciación
Hospital Universitario La Paz
Pilar Nozal Aranda
Investigadora Predoctoral
Hospital Universitario La Paz
Antonia Peña Carrión
Facultativo Especialista de Área en Nefrología Infantil
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).
 
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 diseasemodifying genes in Hereditary Angioedema.
• Genetic and immunological mechanisms associated with Complement dysregulation in partial lipodistrophy.