Rare diseases are a vast and heterogeneous set of pathologies that affect a small number of people. In Europe a disease is classified as rare if it affects fewer than 1 in 2000 people. These diseases are rare but numerous, estimated to affect 3%-5% of the global population. There are currently over 7000 known rare diseases, and new ones are described in scientific publications every year. 80% of rare diseases are of genetic origin and emerge during childhood. It is estimated that in Italy there are 2 million rare disease patients and 30 million in Europe. Rare diseases are generally poorly understood and little studied. They often have a chronic, progressive and degenerative course associated with serious disabilities and at times premature death. The thousands of different pathologies defined as rare have in common some peculiarities that increase the vulnerability of patients: difficulty in obtaining a timely and accurate diagnosis, lack of guidelines for clinical management and specialized medical personnel, lower investment in scientific research vs common diseases, and extremely expensive treatments. Despite this, the knowledge of the natural history of rare diseases is in continuous progress and researchers are increasingly working within international networks to share the results of their research and to accelerate the development of therapies.

Rare Disease Resources

National Centre for Rare Diseases (Centro Nazionale Malattie Rare – CNMR) – Part of the
National Rare Diseases Network, a member of the European Reference Networks (ERNs).
CNMR carries out scientific research and public health activities, both at Italian and
international level. Maintains the National Registry of Rare Diseases (Registro Nazionale
Malattie Rare) and the National Registry of Orphan Drugs.

EURORDIS Rare Diseases Europe – Non-profit alliance of 864 rare disease patient
organisations from 70 countries that work together to improve the lives of the 30 million
people living with a rare disease in Europe.

Orphanet – Portal of rare diseases and orphan drugs. Knowledge resource with the aim of
improving the diagnosis, care and treatment of patients with rare diseases. Orphanet is a
consortium of 40 countries, within Europe and across the globe, supported by grants from the
European Commission.

Osservatorio delle Malattie Rare (O.Ma.R – Observatory for Rare Diseases) – Italian news
agency dedicated to rare diseases and rare cancers.

UNIAMO [in Italian only] – Italian non-profit rare disease patient organisation, which is part of
the EURORDIS alliance.