Rare diseases


Rare diseases

Rare diseases

Rare diseases (RDs) are a conspicuous and heterogeneous group of human diseases (around 7,000-8,000) defined as such because of their low prevalence in the population (affecting no more than 5 per 10,000 inhabitants in the European Union). Taken together they constitute a major health problem and involve millions of people around the world.

About 80% of cases are of genetic origin, the remaining 20% are multifactorial diseases are caused not only by an individual susceptibility but also by other factors (e.g. environmental factors, food factors, ect.) or by the interaction between genetic and environmental causes. RDs age of onset strongly varies from prenatal phase to birth onset or from childhood to adulthood.

Despite their number and heterogeneity, RDs are united by the difficulty for the patient in obtaining an appropriate and rapid diagnosis, the rare availability of decisive treatments, the often-chronic disabling disease course, and family and social burden.

Despite numerous advances, scientific research needs to be further encouraged to understand the mechanisms underlying rare diseases and develop new diagnostic and therapeutic approaches.

In Italy, since 2001, the following initiatives have been established:

  • Italian Network on Rare Diseases dedicated to the prevention, surveillance, diagnosis and therapy of rare diseases
  • National register of rare diseases at the Istituto Superiore di Sanità (ISS, the National Institute of Health in Italy)
  • List of rare diseases for which the right to exemption from participation in the cost of health care services included in the essential levels of assistance is recognized - LEA (Ministerial Decree 279/2001 and Prime Ministerial Decree of 12 January 2017)

Further information malattierare.gov.it