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New discovery helps identify individual genetic patterns

Published Date : 2019-08-04 Author : Eric

A paper published in the journal eLife describes a new computational method that identifies genetic patterns in the heap of individual cells in the body. The discovery will be useful in distinguishing patterns of gene expression across many kinds of diseases, including cancer. Scientists came up with the formulation by testing tissue extracted from the testes of mice. After the success of their research, the scientists have started to apply the same analysis to biopsies taken from men with unexplained infertility. Donald Conrad, co-senior author of the study, Ph.D., Associate Professor and Chief, Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, says that very few studies have attempted to recognize the cause of any condition by comparing single-cell expression measurements from one patient to that of a healthy control.

Conrad adds that they wanted to prove that they could use this kind of information to pinpoint a patient’s defects in unexplained infertility. The scientists hope that the novel method will advance the field of precision medicine so that individualized therapy could be applied as per each patient’s genetic readout. A technique that was recently developed at the University of Oxford is responsible for the revolutionary discovery. The researchers used the method to gene expression data from the massive trove of individual cells containing even the minuscule biopsies, in a process called sparse decomposition of arrays or SDA. Simon Myers, Ph.D., University of Oxford, was a co-senior author on the study.

The authors explain that instead of clustering groups of cells, SDA recognizes components comprising groups of genes that co-vary in expression. The breakthrough technique could open new prospects to diagnose a particular genetic defect and then potentially rectify it with new gene-editing tools like CRISPR. Identification of a specific cause would make a huge difference in diagnosing male infertility, which adds up to a descriptive analysis of testicular tissue biopsies. Infertility affects nearly 0.5 to 1 percent of the male population worldwide.

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