Did you know?

Ankylosing spondylitis (AS) is a hereditary and debilitating form of arthritis that affects around one in 200 people, typically affecting people in their late teens and early 20s. It is around three times more common in men than in women. It mostly affects the spine, causing the joints of the neck, back and pelvis to become inflamed, resulting in stiffness and pain. AS is an inflammatory disease of the immune system and may also affect other parts of the body, including the skin, eyes, bowel and lungs. The cause of AS is largely unknown, but knowing that it often runs in families indicates that genes play a crucial role. It has been known for some time that the HLA-B27 gene is involved in the condition, as 9 out of 10 people with AS test positive for this gene. However, the presence of this gene doesn’t automatically lead to AS. There is currently no treatment that cures the disease, but there are effective therapies which reduce symptoms and help people with the disease.

Ankylosing spondylitis is a form of arthritis that causes the joints of the neck, back and pelvis to become inflamed.

Diamantina’s research into ankylosing spondylitis

Professor Matt Brown, head of the Musculoskeletal Genetics Group, is working on identifying the genes involved in AS and understanding what role they play in the development of this condition. Together with collaborators from around the world, Professor Brown recently discovered two new genes that are involved in this disease, called ARTS1 and IL23R. This finding was hailed as the most significant discovery in this disease since the first gene behind AS was identified 37 years ago. Together with the original gene HLA-B27, we can now account for 70 per cent of the overall cause of the disease. The identification of the two new genes will assist doctors to identify those people at high risk of developing AS. Our researchers are now using this discovery to investigate what role these genes play in the progress of the disease and are working towards developing more effective therapies for AS.

More information

For more detailed information about the research that is being done in the Musculoskeletal Genetics Group, click on the link.
For more information about ankylosing spondylitis, we recommend you visit the Arthritis Australia website or the Australian Rheumatology Association.