What is a rare disease?
The rare disease space is unlike any other in medicine. In Europe, a rare disease is defined as one affecting fewer than one person in 2,000. It is estimated that 8% of Australians live with a rare disease, which equates to approximately two million people.
There are thought to be around 7,000 different rare diseases, affecting more than 300 million people globally. Yet around 95 per cent of rare diseases currently have no approved treatment.
- 300 million people affected
- 95 per cent of rare diseases currently have no approved treatment
- 75 per cent of rare diseases affect children
High unmet medical need
An estimated 75 per cent of identified rare diseases affect children, often having a devastating effect on life expectancy and quality of life. The severe nature of many rare diseases often leads to high levels of distress for patients and their families, with an accompanying high treatment burden. Therefore, improving quality of life and extending the life expectancy of those living with a rare condition are key priorities.
Around 80 per cent of rare diseases are inherited rather than acquired: i.e. they have a genetic origin and are not contagious. As a result, the body may fail to produce an essential enzyme or protein, for example, or the body’s immune defences may attack its own systems.
Due to their rarity, many physicians may never have seen a specific rare condition before; as a result, patients can go undiagnosed for years or even be misdiagnosed. It is thought that 30% of Australian adults living with a rare disease have been impacted by a delay in diagnosis of more than 5 years.
At Sobi, we are dedicated to rare diseases. We aim to provide access to innovative treatments to help improve the lives of people living with rare diseases.
Read more about rare diseases here: https://rarevoices.org.au/what-is-a-rare-disease/
References:
https://rarevoices/2020NationalStrategicAPRD.pdf
https://rarevoices.org.au/what-is-a-rare-disease/
https://www.rarediseaseday.org/article/what-is-a-rare-disease