Rare diseases and orphan drugs: difficulties and perspectives

Rare diseases in the world are estimated in a range that varies between 5000 and 6000 types. Some of these ones are divided in groups or clinical - therapeutic areas, as for example dysmetabolic diseases, congenital anaemia, neuropathies, etc. Therapy and control of rare diseases are problematic, because most of times these pathologies show genetic alterations for which it is not possible to do a real diagnosis. Moreover it is not possible to have specific drugs that require advanced methodologies (biotechnologies, gene therapy, cell therapy, etc.). Rare diseases are chronic and often disabling: they also need specific help and high costs concerning health and social work. In most of cases they also need real effective treatment (for this reason they are considered orphan diseases), because even pharmaceutical firms do not invest in rare diseases. In order to have a right and effective treatment of them, it is necessary that all those people involved in the cure of these diseases, the, organisations that work in the social field, must cooperate with Universities, Research laboratories, pharmaceutical firms, in order to have no more people affected from rare diseases.