The federal government has announced new research aimed at improving the lives of people with rare diseases.
The overall objective of the research is to transform fundamental biological research into medical practice and treatments in the area of rare diseases. For example, one team is conducting research on Fabry disease, a rare condition that affects many organ systems and results in a reduced life expectancy.
This team will conduct a clinical research trial involving gene therapy, with the ultimate goal of establishing an effective treatment for this disease. In total, nine collaborative research teams will be supported. They will investigate a range of issues related to rare diseases, including basic biological science, health services, and policies.
A rare disease is one that affects a small number of people, when compared to the general population. In general, a disease is considered rare when it affects less than one in 2,000 people. They are often chronic diseases and life-threatening.