The Italian National Research Council project on homocystinuria

The Italian National Research Council (CNR) has launched a special project aiming at gathering competences on rare diseases, their pathogenesis and their possible pharmacological management. The subproject on homocystinuria has three main objectives: to establish the prevalence and incidence of the disease in the Italian population, to develop sensitive assays of sulfated amino acids which allow discrimination of heterozygotes from normal subjects and to better define the complex interactions between homocystinuria and vascular complications.