Rare diseases

A disease is considered rare if it affects less than five in every 10,000 people. While this figure for an individual disease is small, there are more than 7,000 rare diseases, some of which are life threatening or chronically debilitating. And collectively, these diseases impact around two million Australians.

Because individual rare diseases have low patient numbers, research into their diagnosis and effective treatment is often lacking. Patients regularly spend years trying to gain a diagnosis, which delays their access to healthcare. However, advances in genomic technologies are improving the outlook for these patients. At Garvan, we’re using cutting-edge whole-genome sequencing not only to discover the genetic cause of rare disease but to identify existing treatments that can transform patient health.