The Epidemiology Unit of Rare Diseases and Congenital Anomalies develops methods and models for research and epidemiological surveillance in the field of congenital anomalies and rare diseases, through the design and conduction of studies on a regional, national and international scale.

The scientific activity aims to: identify risk factors, characterize subgroups of rare diseases, evaluate short- and long-term disease outcomes, develop methods to support epidemiological surveillance of population subgroups, promote the development and quality assessment of registries (clinical and population-based) of congenital anomalies and rare diseases.

Some activities are carried out in collaboration with the "Gabriele Monasterio" and are aimed at the management and scientific development of the two population registries: the Congenital Defects Registry of Tuscany (RTDC) and the Rare Diseases Registry of Tuscany (RTMR). Through the development of methods for integrating the registries with regional health information systems: a) study models are developed to facilitate interaction with the clinical and genetic research component; b) epidemiological indicators are produced to support the monitoring and planning of health services.

The Epidemiology Unit of Rare Diseases and Congenital Anomalies participates in the activities of the regional and national coordination for the population registries of rare diseases and congenital anomalies.

It has also to be mentioned the partnership in important international networks (EUROCAT, ICBDSR, EUROmediCAT, EUROmediSAFE) and international research projects including H2020-EUROlinkCAT, IMI2-ConcePTION, EPIRARE, EuRRECa.