Cell-mapping project to uncover genetic fingerprints of disease

Global genomics company Illumina has joined the Garvan Institute of Medical Research’s TenK10K project to help transform the treatment of complex diseases.

The $27 million project will see Garvan researchers map 50 million human cells from 10,000 people to identify unique genomic fingerprints of autoimmune diseases, heart diseases and cancer. It builds on the success of the so-called OneK1K clinical trial, which demonstrated how genetic fingerprints can help to match individual Crohn’s disease patients with the most effective treatment.

Illumina is supporting the new project with supplies, equipment and specialist research support, which will provide a critical boost for Garvan’s single-cell and whole genome sequencing research and enable upscaling to make the TenK10K project the largest project of its kind. The investment will enable the Garvan Institute to improve how accurately disease-linked immune cell fingerprints can be identified and develop:

• commercial tests to identify the right therapy for challenging autoimmune diseases including multiple sclerosis, rheumatoid arthritis, lupus, type 1 diabetes, spondylitis, inflammatory bowel disease and Crohn’s disease;
• early trials of powerful new RNA therapies;
• potential early targets for treatments for cancers and long COVID;
• tests to track the aftermath of heart attacks and identify risk of sudden death.
   

“This work has the potential to enable a significant step forward in personalised medicine,” said Professor Joseph Powell, leader of the OneK1K and now TenK10K project at Garvan.

“In 2022, in a paper in Science, we announced that we had analysed the genomic profile of more than one million cells from 1000 people to identify markers of autoimmune disease. We were able to do this using single-cell sequencing, a new technology that allows us to detect subtle changes in individual cells.

“That led to a proof-of-principle clinical trial at 10 Sydney hospitals to see if we can improve the treatment of Crohn’s disease. The early results suggest we can predict a patient’s response to a therapy based on their genetic profile. Through single-cell sequencing, which analyses individual cells rather than an average of many cells, we can see fingerprints that we’ve never been able to distinguish before.

“Now, with the help of Illumina, TenK10K will build on this work to generate single-cell data on around 50 million cells from 10,000 individuals to further improve the accuracy of predicting disease risk and treatment response. This research will help identify the subtle genomic differences in everyone’s cells, which will help us speed up diagnosis and treatment for many diseases.”

“A few years ago, this project would have been impossible,” said Illumina’s Simon Giuliano, Commercial Lead for Oceania. “Now we have the technology to rapidly and cheaply detect the difference in the genomics of individual cells using next-generation sequencing. And that opens up the potential of a new era of personalised health, where the variation in every human cell flags the right treatment for an individual’s disease, avoiding the trial and error in the past.”

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