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Tackling autoimmune diseases using sequencing

Vinuesa DNA_960Patients with auto-immune diseases will be receiving more personalised treatments thanks to the work of scientists sequencing the human genome to look for uncommon variations.

“Auto-immune diseases are diseases like lupus, type 1 diabetes and rheumatoid arthritis, and we are more and more convinced that rare gene variants are going to be very informative in understanding these diseases” says Professor Carola Vinuesa from The Australian National University.

Auto-immune diseases are often quite rare and hard to diagnose, and the genetic causes have previously been almost impossible to discover. Thanks to recent improvements in genomic sequencing and analysis combined with the computational power of Raijin, Professor Vinuesa and her team are pinning down several distinct variations in the genome that could be at fault.

Bridging the gap between applied medicine and ground-breaking research, they are helping to identify better treatments for individual people living with chronic illness while learning about the genetic basis of certain diseases. This will make it possible to help other similar cases more effectively in the future.

Professor Vinuesa says “even if a particular protein mutation might only be identified in one patient, there could be patients with the same disease or even related types of diseases that might have mutations in the same protein but at a different location. The discovery of a protein that’s relevant for a disease will then illuminate the disease of many other patients.”

Professor Carola Vinuesa.

Professor Carola Vinuesa.

Without NCI, says Professor Vinuesa, “it would be impossible to deal with whole genomes. NCI have been extremely helpful as we needed to increase our usage of their computing capacity and storage. I admire the way they are thinking big in terms of dealing with large datasets and doing things that could have a nationwide application.”

For now, this team is one of the few around the world using whole genome sequencing to look into the genetic causes of complex immune diseases. ”We now have an amazing database that can incorporate all of the variants of every individual we have sequenced into a single place, so we can interrogate it for variants that we have found in all of our patients.”

They have already made a lot of progress, but Professor Vinuesa and her team are just getting started.

“If we are interested in a variant we can immediately ask ‘Has this been found in any other patient?’. In the end that’s what we want, to try and find tailored treatments for patients with immune diseases.”

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