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ENTRY TITLE

A universal blood test for tissue-specific cell death
IDEA BY: Joshua Moss LOCATION: Canada CATEGORY: Science/Medical

ENTRY TITLE

A universal blood test for tissue-specific cell death
IDEA BY: Joshua Moss
LOCATION: Canada
CATEGORY: Science/Medical

ENTRY DESCRIPTION

The detection of cell death and the identification of the tissue in which it takes place can transform the way diagnosis and monitoring is done for many diseases, including cancer.

Cell death is a fundamental aspect of many human diseases, yet to date there is no method to detect it without surgery. The detection of cell death and the identification of the tissue in which it takes place can allow for earlier diagnosis and better monitoring of diseases like cancer, heart disease and sepsis. It is now clear that when cells die, they tend to release their DNA into the bloodstream. Furthermore, while the genetic code of every cell in a body is identical, the source tissue of DNA can be identified by analyzing a chemical modification to the DNA, called DNA methylation. DNA methylation represses certain genes in the genome which need not be active in a given tissue. For example, a gene which is crucial for liver function but not for the function of other organs will most likely be unmethylated in the liver, while being methylated in other tissues. By analyzing the methylation patterns of DNA circulating in the bloodstream, it is possible to identify tissues currently undergoing cell death. Furthermore, cancer cells also have unique DNA methylation patterns. Therefore, analysis of DNA methylation patterns of circulating DNA can allow both the identification of tissues undergoing cell death and the determination of whether or not the dying cells are cancerous. With the use of high-throughput DNA sequencing, it is possible to analyze hundreds of regions which have methylation patterns unique to different tissues and to cancer cells, at a low cost (< 100 dollars per sample) and high efficiency. My idea is to create a kit which can be used to capture informative regions of the genome of circulating DNA, and allow the inference of which cells are dying in the body, an extremely valuable tool for the detection and monitoring of cancer and other diseases.