Rare diseases

TOPIC

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

Back Italian External Quality Assessment of Genetic Testing


The Italian External Quality Control ogf Genetic Testing (EQA) i san Institutional activity founded in 2000 as a research project. Since 2009, the laboratory pay a fee to participate  (Official bulletin G.U. Serie Generale n.199 del 28/08/2009 con successivo aggiornamento in G.U. Serie Generale n. 82 del 09/04/2015).

The ISS is identify as the national provider in the official document “Guidelines for Medical Genetic activities- Conferenza Stato Regione 15/07/2004. The activity is carried out in collaboration with ational experts belonging to national and international scientific societies. TO date, three macro-areas are actives and the following schemes are offered to national laboratory:

Molecular genetic:

  • Cystic Fibrosis
  • Beta Thalassemia
  • Fragile X-Syndrome prescreening scheme
  • Fragile X-Syndrome Full Scheme

Citogenetyc analysis:

  • Prenatal Citogenetyc analysis
  • Postnatal Citogenetyc analysis
  • Oncological Citogenetyc analysis

Molecular Oncology:

  • Adenomatous Polyposis Coli (APC e MUTYH genes)
  • Hereditary breast and ovarian cancer (BRCA1 e BRCA2 genes)
  • Lynch Syndrome (MLH1, MSH2 e MSH6 genes)

For more information visit the Italian website: www.ceqtestgenetici.it