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Genomics Week in Brief: Week Ending 21st June

Happy Monday! We hope you had a great weekend, and are ready for the latest news in Week in Brief.

There have been several updates in the infectious disease field this week…

Researchers have detailed the genetic basis of variability in sepsis response. Understanding why individuals have different responses could lead to more effective, personalised treatment (Cell Genomics).

As part of the Human Cell Atlas, researchers have used single-cell technology to map the body’s response to COVID infection. The work explains why some individuals appear to not get COVID-19 following exposure (Nature).

Scientists have developed a low-cost, CRISPR-based test for the flu, which can be used to differentiate between different strains of the virus. A simple test such as this one could transform infection surveillance (The Journal of Molecular Diagnostics).

And aging research has been in the spotlight…

A study in C. elegans has revealed that the balance of mRNA content between germline and somatic cells is partly responsible for heterogeneity in the speed of aging (Cell).

Researchers have developed a method named Telo-seq, which can determine the precise sequence and length of telomeres on individual chromosomes. This new tech could revolutionise aging research by shedding light on telomere mechanics (Nature Communications).

Alzheimer’s and dementia have also been at the forefront of this week’s news…

A strong recessive component has been identified in Alzheimer’s disease, with a new study showing that individuals homozygous for a mutation in the TREM2 gene are at higher risk of the condition due to disrupted amyloid-β clearance (NEJM).

Having one copy of the ‘Christchurch’ APOE3 variant protects against autosomal dominant Alzheimer’s, delaying the onset of cognitive decline (NEJM).

White matter hyperintensity burden, a feature of cerebral small-vessel disease, is associated with dementia risk. This finding opens new avenues for treatment and prevention (JAMA Network Open).

What else has gone on this week?

According to a recent study, complex ‘inverted triplications’ arise due to the switching of templates during the DNA repair process, leading to a number of human diseases (Cell Genomics).

A new genetic therapy, using silencing RNA, has been developed to treat the rare skin condition congenital melanocytic naevus syndrome. The disease causes giant moles across the body and predisposes individuals to melanoma – the gene therapy could prevent this by silencing the mutated NRAS gene that leads to the condition (Journal of Investigative Dermatology).

A study analysing genetic and environmental risk factors for depression during the COVID-19 pandemic has shed light on why some individuals are more susceptible to the condition than others (Scientific Reports).

Check out last week’s Week in Brief here.