What is a rare disease?

The European Union defines a disease or condition as rare if it affects fewer than 1 in 2,000 people within the general population. Currently, 6000 to 8000 rare diseases have been identified, and new conditions are regularly being described in the literature.

Around one in 17 people will develop a rare disease at some point in their lives, so while they are individually rare, cumulatively these diseases affect a substantial proportion of the population. The impacts on these individuals and their families are wide-ranging. 

About 30 million people living in the European Union (EU) suffer from a rare disease. More than 90% of rare diseases still lack an effective treatment. Often rare diseases are chronic and life-threatening. Rare diseases can be a single gene, multifactorial, chromosomal or non-genetic. It takes years to receive an accurate diagnosis of a rare disease. 

Rare diseases include rare cancers such as childhood cancers and some other well-known conditions, such as cystic fibrosis and Huntington’s disease.

If you would like more information on specific rare diseases, please visit Coordinating Center for Rare and Undiagnosed Diseases, the portal for rare diseases and centres in Kaunas Clinics.

Watch

https://www.youtube.com/watch?v=j7qcIuEdhiA&ab_channel=Kaunoklinikos
 

Listen

Read: