Researchers devise new method to facilitate genomics-based precision medicine

The analysis of genomic data of more than 30,000 people from an international team has revealed thousands of new regulatory areas in the body that control disease-associated genes. This finding is a new resource that is available to researchers worldwide.

The finding is a significant step toward genomics-based precision medicine and could help detect markers to reveal which patients to most benefit most from which type of treatment.

Meanwhile, the study provides an entirely new view for genetic regulation. It does so by uncovering an in-depth picture to understand how genes and diseases are linked. Importantly, this is the most detailed analysis provided so far to understand how genetic variation impacts gene expression.

The discovery serves to be an entirely new perspective on the genes of interest for researchers, and will help prioritize genes that could be more relevant for treatment purpose. This could also lead to understand improved markers for tracking progression of disease and the efficacy of medicines.

In fact, to understand the role of human genetic variation on the risk of disease, this compels researchers to undertake genome-centric studies. This involves scanning the genomes of patients and look for genetic variants that are commonly associated with a specific condition.

However, the interpretation of results in not straightforward. It influences how much protein is produced instead of revealing clearly how genetic variants regulate activity of genes. The pinpoint of these regulatory regions, this enables researchers to better understand the genes that directly contribute toward risk of disease and the ones that could be targeted with precision treatments.

Elaborately for the study, researchers employed specialized machine learning algorithms to comprehend genomic data obtained from the blood samples of 31,684 individuals.

Researchers devise new method to eradicate leukemia at source

In cancer studies, a new method holds the potential to boost international research efforts to find drugs to eliminate cancer at its source.

The new method is described in a paper published in the journal Nature Communications.

Physiologically, most cancerous tissues consist rapidly dividing cells with limited capacity for self-renewal. This means the bulk of the cells stop reproducing after divisions a certain number of times. However, cancer stem cells can divide indefinitely to fuel long-term cancer growth and drives relapse too.

Meanwhile, conventional treatments such as chemotherapy is avoided for cancer stem cells. This is because for chemotherapy patients initially enter remission but soon leads to relapse. In fact, for patients of acute leukemia, the high probability of relapse implies less than 15% of elderly patients do not live longer than five years.

On the other hand, cancer stem cells are difficult to separate and undertake their study. This is because cancer stem cells are low in number and have similarity to other stem cells. This hampers international research for cancer stem cells to develop precision treatments that target to destroy malignant cells, and at the same time spare healthy cells.

A research initiative undertaken by a team of researchers at the Center for Genomic Regulation and the European Molecular Biology Laboratory have overcome this problem by creating a new method. Called MutSeq – the new method can be used to distinguish cancer stem cells based on their gene expression and genetics.

β€œIn human physiology, RNA provides critical information for human health. For example, polymerase chain reaction (PCR) test to detect coronavirus examines its RNA to detect COVID-19. The subsequent sequencing of RNA can detect the virus variant, explains the author of the paper.”