Wednesday, April 10, 2019

Researchers are using genes to diagnose rare diseases

Scientists from Canada and the United States are working on trying to find a genetic tool to diagnose rare genetic problems that before would usually be misdiagnosed or untreated. The genetic tools out there right now just don't seem to be able to pick up those mutations at a consistent rate. The tool that is in the works right is using a patient's episignature to identify these mutations. A episignature  is a signature that shows when there are slight mutations to the gene. If this tool can be perfected and be used on the general market this could help diagnose many patients who just never got any answers to what is causing these symptoms.
Frontiers | Epigenetics across the human lifespan | Cell ...article

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