The researchers driving change
Did you know that right now 2 million Australians are living with a rare disease and half of them are children?
That’s why CIRCA, the Clinical Immunogenomics Research Consortium Australia, has come together. CIRCA is a collaboration of medical and scientific professionals tackling the most mysterious and most devastating immune diseases.
Led by Professor Stuart Tangye, Head of Immunology at Garvan, CIRCA is helping people with rare immunological diseases obtain a diagnosis through genome sequencing.
Why is a genetic diagnosis important to rare disease?
Some 80% of rare diseases are genetic. The onset of a rare disease can start as early as childhood all the way through to adulthood. Often diagnosis is delayed because the individual numbers are so small and the diseases are complex in nature.
Every individual’s genome contains large numbers of genetic variations. Undergoing genetic testing or genome sequencing can give patients with rare immune diseases a genetic diagnosis.
This makes it possible to deliver therapies tailored to their specific condition, and to anticipate future concerns. It can also end the ‘diagnostic odyssey’ of invasive, inconclusive testing.
How does your support help?
Stella (pictured left) spent one week out of every month in hospital for almost 18 months - until she received a clinical genetic diagnosis through the CIRCA program. After a bone marrow transplant, and thanks to the early diagnosis because of the CIRCA program, Stella’s prognosis is looking good.
Your support can help those with an immunological disease, like Stella.