Researchers to Chart 50 Million Human Cells in Search of Disease Signatures. Credit | Getty images
Researchers to Chart 50 Million Human Cells in Search of Disease Signatures. Credit | Getty images

Researchers to Chart 50 Million Human Cells in Search of Disease Signatures 

United States: Researchers from Illumina, a worldwide leader in genomics and human well-being, and the Garvan Institute of Medical Research have formed a collaboration to chart 50 million human cells from 10,000 individuals in order to pinpoint distinct genomic signatures associated with various diseases. 

This endeavor will focus on unraveling the genomic imprints of autoimmune disorders, cardiac ailments, and malignancies. It builds upon the promising outcomes of a clinical investigation centered on Crohn’s disease, which afflicts over 80,000 individuals in Australia alone. 

Termed the TenK10K initiative, it has garnered a combined investment totaling 27 million Australian Dollars. The endeavor will extend the investigations of the OneK1K clinical study spanning ten medical facilities in Sydney, certain reports claimed.  

Researchers to Chart 50 Million Human Cells in Search of Disease Signatures.
Researchers to Chart 50 Million Human Cells in Search of Disease Signatures.

“Illumina is lending crucial support to this initiative through the provision of resources, apparatus, and specialized research backing, thereby catalyzing Garvan’s endeavors in single-cell and whole genome sequencing research and facilitating the scaling up of the TenK10K endeavor to unprecedented proportions. This investment will empower the Garvan Institute to enhance the accuracy in identifying and refining disease-associated immune cell signatures,” remarked the Garvan Institute of Medical Research in an official statement. 

The team has already unveiled, in a paper published in the journal Science, their analysis of the genomic makeup of over one million cells derived from 1,000 individuals, aimed at identifying markers linked with autoimmune disorders. Leveraging single-cell sequencing, a cutting-edge technique enabling the detection of subtle variations within individual cells, proved instrumental in this endeavor, as per reports.  

“The preliminary findings suggest our ability to prognosticate a patient’s response to therapy based on their genetic constitution. Through the employment of single-cell sequencing, which scrutinizes individual cells rather than conglomerates thereof, we can discern nuances that were hitherto imperceptible,” explained Professor Joseph Powell, the principal investigator of the OneK1K initiative and now the TenK10K project. 

As part of this new venture, the team will undertake commercial assays to tailor therapies for complex autoimmune maladies such as multiple sclerosis, rheumatoid arthritis, lupus, type 1 diabetes, spondylitis, inflammatory bowel disease, and Crohn’s disease. 

Furthermore, they will embark on initial trials of potent novel RNA-based therapies, identify potential early targets for cancer treatments and long-term Covid management, and conduct examinations to monitor post-heart attack sequelae and assess the risk of sudden cardiac demise.