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Week in Brief: Week Ending 9th August

Happy Monday folks! What better way to start the week than catching up on the biggest news in the genomics world?

Genomics isn’t the only driving factor behind disease. In fact, epigenetics has been a hot topic recently…

Researchers have discovered that genome-wide methylation ‘episignature’ can help pinpoint the cause of developmental and epileptic encephalopathies, which could assist with diagnosis and treatment (Nature Communications).

A large-scale analysis has identified thousands of CpG sites that are associated with several different cancer types, showing that epigenetic changes are an important driver of tumour development (Nature Communications).

But that doesn’t mean we aren’t still learning about the role of genetics in human health…

A new study has shown that there is vast genetic diversity within South American populations, particularly when it comes to the genetic variations that impact drug response. The work highlights the importance of ensuring diversity within scientific research (Cell).

Researchers have developed a non-invasive tool to measure gene expression levels in the brain, improving upon risky biopsies, the only available option at present. Understanding gene expression in the brain could be integral in understanding how to treat a number of diseases (Science Advances).

A recent study made its way into the news this week, detailing three distinct subgroups of Down syndrome based on gene overexpression patterns (Nature Communications).

The underlying genetic basis of a rare, inherited muscle disorder were uncovered in a recent study. Non-coding repeat expansions were implicated in the condition, furthering research into the role of this kind of mutation in neuromuscular disease (Nature Communications).

The interplay between genetics and behaviour has also been discussed this week…

A lifestyle intervention study has revealed that exercise and a healthy diet act to lower the risk of type 2 diabetes, even in individuals with a high genetic risk (JCEM).

Your friends may have more influence on you than you think; a new study has shown that an individuals genetic traits, particularly those encoding risk factors for psychiatric disorders and drug misuse, can ‘rub off on’ their peers during adolescence (Psychiatry).

What else has been going on this week?

Researchers have developed a machine learning-based approach to engineer adeno-associated viruses. This method aims to make the process quicker and more efficient, and could transform the delivery of gene therapies (Nature Communications).

In a bid to develop a less demanding treatment for HIV, scientists have created a single-dose shot that significantly reduced viral levels in nonhuman primates (Science).

An analysis of the genetic makeup of over 2,000 colorectal tumours has revealed unprecedented information about the molecular landscape and genetic drivers of this cancer type (Nature).

Check out last week’s Week in Brief here.