What’s been going on in the life sciences world this week? Check out Week in Brief for an overview of the biggest news from the last seven days.
Using long-read sequencing, researchers have identified a repeat expansion in an intron linked to a rare form of frontotemporal dementia. The finding comes after years of work to obtain enough patient samples to perform a genome-wide association study.
Researchers have published a single-cell atlas of epigenetic changes in the ageing mouse brain. It represents eight brain regions and a wide range of cell types, and could shed light on ageing related conditions and neurodegenerative disease.
A study has shown that optical genome mapping is a reliable method to detect genetic alterations in acute leukaemia. The method was so highly sensitive that it detected previously unseen variants in around 20% of cases.
Genetic testing could be used to identify patients at risk of malignant hyperthermia, a life-threatening reaction to certain anaesthetics. This testing should be guided by and complemented by screening questions related to personal and family history.
A new report has shown that around 50% of women in the UK have had their symptoms ignored or dismissed by medical professionals. The report is based on 100,000 posts on the forum Mumsnet, with Health Secretary Wes Streeting vowing to drive change.
Scientists have sequenced 1,000 Aeromonas bacterial genomes, a pathogen that is often confused with cholera due to overlapping symptoms. Understanding the Aeromonas genome is crucial to ensure that it is detected and treated appropriately, as some strains are resistant to antibiotics, and it is able to spread these traits other species.
Researchers have identified the role of the HORMAD1 gene in triple negative breast cancer, which is typically only active in reproductive cells. The findings showed that when activated in cancer cells, the gene disrupts DNA damage control and drives tumour growth.
Scientists have identified an enzyme that disrupts stress responses in cancer cells. By impairing the effect of a master transcription regulator, mutations in the DHX8 enzyme can prevent cells from dealing with cellular stress and damage.
Advanced imaging techniques could be used to track tumour growth and treatment response over time in a non-invasive manner, according to a new study. The researchers used patient-derived mouse models of paediatric-type diffuse high-grade glioma in the study, showing that the models effectively replicate human disease and that imaging can be used to efficiently track tumour behaviour.
A mutation in a gene that helps animals survive at high altitudes could promote regeneration following nerve damage. Mice carrying this mutation had more myelin around their nerve fibres, displaying a protective advantage against nerve damage, and providing hope the treatment of conditions such as MS.
Check out last week’s Week in Brief here.
