It is a national reference group for the study of primary or acquired defects of the complement system. The main objective is to understand the molecular mechanisms underlying complement deficiency or dysregulation in various human diseases, most 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. Following a clearly translational approach, the group also develops new diagnostic tests that are implemented in clinical practice, particularly for treatment adjustment and patient monitoring.
The research lines can be classified as follows: screening and characterisation of genetic or acquired complement defects causing 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 of disease-modifying genes (III), and the study of pathogenic mechanisms in acquired lipodystrophies (IV).
• Detección y caracterización de defectos de Complemento en patología renal.
• Diagnóstico bioquímico y molecular de deficiencias de componentes individuales del sistema del Complemento
• Diagnóstico, estudios moleculares y la detección de genes modificadores de la enfermedad en el angioedema hereditario
• Genetic and immunological mechanisms in partial lipodystrophy associated with Complement dysregulation.
• Characterisation of autoantibodies in acquired generalised lipodystrophy.