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Genomics Week in Brief: Week Ending 10th May

Welcome back to Week in Brief, your number one stop for the latest genomics news!

Gene therapy has been in the news this week…

A child with a genetic form of deafness has been treated with a gene therapy that replaces a faulty version of the Otof gene. The researchers in charge of the trial hope that the therapy can help more patients and be applied to other forms of deafness (BBC).

79% of participants in a trial of an experimental gene therapy for a rare form of retinal degeneration have experienced improvement in their vision, according to recent results (NEJM).

And aging research has been in the spotlight…

A study has shown that biological aging clocks measure the accumulation of stochastic variation, and that environmental factors, such as smoking or diet, can impact the aging process (Nature Aging).

In another study of biological aging, scientists have found that identity-based discrimination may speed up the process. This is likely due to chronic activation of stress responses and subsequent epigenetic alterations (Brain, Behaviour and Immunity).

Additionally, a study of an autopsy cohort has revealed that living in a disadvantaged neighbourhood may lead to DNA methylation changes, poor health outcomes and accelerated biological aging (Aging).

What’s been going on in infectious disease research?

Researchers have analysed a strain of strep A that was responsible for a surge in infections in the last two years, answering questions regarding the strain’s emergence and dispersal internationally (Nature Communications).

Individuals with a mutation that reduces the production of an immune cell-surface protein are less able to clear viral infections, according to a new study. The findings reveal a new treatment target for infectious diseases (Blood).

Scientists have used deep mutational scanning to understand the mechanisms underpinning transcription in hepatitis B. Understanding this molecular mechanism could lead to the emergence of new treatment options for the currently incurable condition (Cell).

And that’s not all!

Researchers have developed an epigenetic editing system that allows for chromatin modifications to be programmed into any location in the genome (Nature Genetics).

Scientists have analysed the genomes of cerebral palsy patients and discovered that underlying genetic variation may be responsible for the condition in a significant number of individuals, rather than a lack of oxygen at birth alone (Nature Medicine).

Researchers have identified a genetic link between growth during puberty and long-term health as an adult, showing that those who grow taller earlier in puberty are more likely to suffer from health conditions like atrial fibrillation in the future (Genome Biology).

Check out last week’s Week in Brief here.