Welcome back to Week in Brief, where you can get the latest updates from the genomics world and beyond!
Genetic risk factors have been in the news this week…
Researchers have developed a polygenic risk score for alcohol-associated cirrhosis in heavy drinkers. The tool could be used for early detection of the condition, potentially saving thousands of lives every year (Hepatology Communications).
Scientists have assessed the association of polygenic risk scores with Alzheimer’s disease and plasma biomarkers in a Chinese population. This work could help to inform lifestyle changes that could improve health and wellbeing (Alzheimer’s and Dementia).
Plus, new research has revealed how variants in the ABCA7 gene, which are commonly found in Black individuals, contribute to Alzheimer’s disease. Understanding how these population-specific risk factors contribute to disease could help with the development of more targeted therapies (Cell Genomics).
What’s been going on in the microbiology world?
A new study has revealed that some vancomycin resistant strains of S. aureus develop compensatory mutations, which allow the resistance to persist across generations despite the relative durability of the drug (PLOS Pathogens).
A metagenomic study of the foods we eat – the largest of its kind – has revealed over 10,000 food-associated microbes that comprise a significant proportion of the human microbiome. Over half of these microbes were novel species (Cell).
Machine learning and artificial intelligence are still making headlines…
Scientists have developed a technique that combines machine learning and mass spectrometry data to differentiate between authentic and ‘fake’ vaccines. This method could prevent falsified vaccines from entering global supply chains (npj Vaccines).
Furthermore, researchers have developed an AI model that can detect tiny changes in cells, which can be indicative of cancer or viral infections. This level of detail could be crucial in the diagnosis and ongoing surveillance of disease (Nature Machine Intelligence).
What else has gone on this week?
A map of the human endometrium at various stages of the menstrual cycle has been published. Part of the Human Cell Atlas project, this map details crucial cellular changes that could contribute to our understanding of conditions such as endometriosis (Nature Genetics).
New research has shown that synonymous mutations may be more impactful than once thought. In a study published last week, a supposedly ‘silent’ mutation was seen to impact the expression of an upstream gene (PNAS).
A link has been established between a grandparent’s education level and their grandchildren’s epigenetic age. According to the study, individuals with a college-educated grandparent experienced slower biological aging (Social Science and Medicine).
Scientists have developed an anti-cancer drug, which targets a protein essential to the proliferation of a form of infant leukaemia. The drug suppresses oncogene expression, reducing the progression and spread of the disease (Science Advances).
FInally, over 50,000 ‘knots’ in the human genome have been mapped this week. The structures, known as i-motifs, are commonly found in regulatory areas of the genome, and could be involved in gene expression (The EMBO Journal).
Check out last week’s Week in Brief here.
