Rare diseases are defined by the Australian Department of Health as a disease that affects less than 5 in 10,000 people. Although ‘rare’ suggests not many people are affected, collectively, 300 million people around the world live with a rare disease.

  • There are more than 7,000 rare diseases that are life threatening or chronically debilitating.
  • Around 8% of Australians (2 million people) live with a rare disease.
  • Most rare diseases are genetic in origin.
  • Diagnosis can often take time because these conditions are complex and doctors do not see them often.

Rare disease research can have surprising collateral effects. For example, study of a disease called Tangier disease, which affects less than 100 people worldwide at any time, resulted in an understanding of how cholesterol is shuttled in and out of the cell. This research is the basis of new treatments that are now being trialled to reduce the effects of heart disease.

While SVI is well-known for its focus on studying common diseases – such as cancer, Alzheimer’s, osteoporosis, heart disease and type 1 and type 2 diabetes – some of our scientists also study the mechanisms that will lead to a better understanding of some rare diseases, including those listed below.

About Fanconi Anaemia

Fanconi anaemia is a rare genetic disease that leads to blood disorders (including aplastic anemia and acute myeloid leukemia) at an average age of 7 years old, and an increased predisposition to cancer in later years. Approximately 1 in 80,000 people are affected. There is currently no cure.

The SVI research units studying this disease are the Genome Stability Unit and the DNA Repair & Recombination Laboratory.

About Aicardi-Goutières syndrome 

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that leads to an autoinflammatory response causing profound neurodegeneration and loss of motor and communication skills early in life. There is currently no cure.

The SVI research unit studying this disease is the Cancer & RNA Biology Unit.

About Friedreich’s Ataxia

Friedreich’s Ataxia is a genetic neurodegenerative disorder that affects one in 30,000 Australians. It is most commonly diagnosed between the ages of 5 and 18 and it quickly and ruthlessly robs those diagnosed of their mobility. There is currently no cure.

The SVI research unit studying this disease is the Cardiac Regeneration Laboratory.