What are rare diseases?

Rare disease definition

Rare diseases are defined as life-threatening or chronic debilitating diseases that occur in such low prevalence (1 in 2000) special combined efforts are needed to address them.

“Rare diseases are variant phenotypes created by the experiment of nature and misfortunes of the environment” – Professor Wei Wang, MD, PhD, FFPH, FRSB, FRSM

Who is affected by rare diseases?

Rare diseases affect mainly children and do not discriminate to one particular disease category (such as cancer). Instead, rare diseases affect children across all disease categories*. For example, diseases of the nervous, respiratory, circulatory, musculoskeletal, digestive, immune, visual systems, diseases of the skin, blood, developmental anomalies, cancers.

*Diseases are categorised by the International Classification of Diseases 11th revision from the World Health Organisation.

At a glance

Rare diseases are a global health priority. There are over 7000 different types of rare diseases. Although individually rare, when combined, rare diseases are common, affecting approximately 7% of the population. In Australia, about 2 million people live with a rare disease. The majority of those affected are children.

Rare diseases are painful, debilitating, and cause great suffering. Approximately 80% have a genetic component. Only 5% of all rare diseases have effective treatments.

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