Area description



INVENT es el Sistema de Información para la Investigación en Enfermedades Raras.



Research group
Head of Area
Clara Cavero
Óscar Zurriaga
Técnicos de apoyo a la investigación
Silvia Gimeno

Researcher group history


Rare Diseases



The FISABIO- Public Health Rare Diseases Area aims to increase our understanding about the current situation and distribution of rare diseases and their consequential effects on the population, using epidemiological methods for the analysis of the design and implementation of studies, in addition to spatial epidemiology techniques and the study of quality of life of individuals with rare diseases. The use of records and databases is key for the development of research in the field of rare diseases as they enable the attainment of a sufficient sample size for clinical or epidemiological research.










Research Lines

1. Determining the prevalence of rare diseases

This involves the development of methods to estimate the global prevalence of rare diseases with the use of generic health databases.

2. Studying inequalities in rare diseases

This involves the development of valuation techniques for social and socioeconomic indicators for the rare disease that lead to a greater extent of disability

3. Analysing the determinants of rare disease

This line focuses on the study of the relationship between environmental risk factors and rare diseases, as well as the relationship between potential risk factors of rare diseases and the distribution of genetic strains.



- Spanish Rare Diseases Registries  (SpainRDR)

- European Surveillance of Congenital Anomalies (EUROCAT)