Published 3rd September, 2012

Adrian Cortes’ presentation on the genetics of ankylosing spondylitis has won him the Best Oral Presentation in the Student category at the GeneMappers 2012 conference in Port Douglas. 

Ankylosing spondylitis is a heritable inflammatory arthritis disease which affects approximately 22,000 Australians. The disease primarily affects the spine and pelvis, and chronic inflammation leads to bone formation and joint fusion, which causes significant disability. Little is known about how the disease starts and how it progresses, and no cure is known.
 
Adrian showed his and his colleagues research aims to better characterise the genetic architecture of AS.
 
In their study, 11,000 patients with AS were compared with the DNA of 15,000 healthy individuals to observe differences in genes. The researchers specifically looked at areas of the genome involved in immunological functions and Adrian and his team found 13 new regions associated with AS. These findings were observed in individuals of European and Asian ancestry.
 
This further understanding of the genetic architecture of AS aids researchers in explaining the high heritability and familiarity of AS. The data discovered will help guide functional studies towards uncovering how these genes cause disease and will ultimately pave the way for development of new therapeutics.
 
“I was honoured to have the opportunity to present my work to leading geneticists in Australia and speakers from abroad. And I am most definitely thrilled for being selected from eight outstanding student presentations,” Adrian said.
 
The GeneMappers Conference runs every two years with a strong presence of delegates nation-wide. The conference themes revolve around next-generation sequencing strategies, statistical analysis of sequencing data and gene expression, and functional genomics.
 
GeneMappers is the main human genetics conference in Australia and renowned national and international speakers gather together to talk about their research.
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