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.
A study has shown that the order in which cancer-driving mutations occur is a key factor in determining how tumours develop and progress. Two experiments in mice showed that early mutations linked to colorectal cancer can shape the tumour microenvironment and influence cell survival, pointing towards new strategies for prevention and early detection.
In the largest ever study of the nasal microbiome, researchers have discovered that persistent carriers of Staphylococcus aureus have less diverse bacterial communities in their noses. By analysing the makeup of the nasal microbiome, patients at risk of S. aureus infection could be identified more effectively.
Scientists have combined long-read sequencing and genome graphs to better understand the evolution of Mycobacterium tuberculosis. These techniques helped to identify structural changes and variation within large repetitive regions, shedding light on the development of features like drug resistance.
A study of 400 patients with advanced inoperable malignant melanoma has shown that a lower dose of immunotherapy may be more effective than a standard dose. Not only did patients exhibit fewer serious side effects, progression-free and overall survival both increased when a lower than approved dose of ipilimumab was administered.
Exa-cel, a gene therapy for beta-thalassemia and sickle cell disease that is currently approved for use in those over 12 years of age, may offer a ‘cure’ for children with these conditions, according to results of two new trials. The results suggest that, by administering this treatment at a younger age, patients could avoid long-term chronic symptoms such as organ damage.
A study into the early stages of endometriosis has identified several genes associated with the condition, some of which appear to be derived from early human ancestors and even Neanderthals. These genes are known to react to some common chemicals, such as those in cosmetics or cleaning products, suggesting that a mix of genes and the environment play a role in endometriosis development.
Using long-read sequencing, researchers have identified 41,000 transcripts missing from official GENCODE gene maps. These maps were built using primarily European DNA, meaning variation found in other populations was lacking; over 40% of the newly found transcripts code for never-before-seen protein variants.
By using satellite data to obtain accurate information on the weather at each study participant’s home, researchers have found new links between, genes, weather, and vitamin D status. They identified over 300 genetic variants related to vitamin D status, many of which were also linked to circadian rhythms and metabolism.
Advice published last week has suggested that prostate cancer screening should not be extended to the majority of men in the UK; instead, men over the age of 45 who have a faulty copy of the BRCA1 or BRCA2 gene should receive screening every two years in a bid to avoid overdiagnosis.
A study has compared five different DNA foundation language models to help researchers choose the best tool for their research. The authors benchmarked the models based on factors such as sequence classification, gene expression prediction, and variant effect quantification.
Check out last week’s Week in Brief here.
