A ‘rare disease’ is surprisingly hard to define. The European Union states a rare disease affects less than one in 2000 people, while America prefers an incidence statistic of one in 200,000.
What is clear is that more than 6000 known rare diseases affect almost two million Australians, half of which are children. Eighty per cent of rare diseases have genetic origins and can sometimes occur in families without any history of the disease.
School of Biomedical Science Associate Professor Michael Piper answers some questions about his research on rare diseases.