Dialog Box


What Is A Rare Disease?

The most widely accepted definition is that a rare disease is one that affects less than five in 10,000 people. While estimates of the number of rare diseases may vary between countries and studies, due to differing definitions and challenges with data collection, it is prominently cited that there are more than 7,000 different rare diseases.


The increasing precision of genomic technologies means that new diseases are being discovered regularly. While individual diseases may be rare, the total number of Australians living with a rare disease is not. Approximately eight per cent of Australians live with a rare disease. Extrapolated to an Australian population of over 25 million people, this equates to around two million Australians.


Approximately 80 per cent of rare diseases are of genetic origin. Types of non-genetic rare diseases include cancers, infections and autoimmune disorders.


Rare diseases, like many other chronic diseases, are often serious and progressive. They typically display a high level of symptom complexity and thus are a significant cause of ongoing health and psycho-social challenges. There is no cure for many rare diseases, and so improving quality of life and extending life expectancy of people living with a rare disease relies on appropriate treatment and care.


Note: the above information has been taken from the National Strategic Action Plan for Rare Diseases (page 9). © Commonwealth of Australia (Department of Health) 2020.


For information about specific rare diseases, please see Orphanet, the portal for rare diseases and orphan drugs. You can also check RVA’s A-Z list of rare disease support organisations.