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Genomics week in brief: Week ending 8th April

Check out the latest Genomics Week in Brief – full of intriguing news and research from the genomics space!

Top stories from the past week:

  • Using a multi-omics approach, researchers have uncovered genetic drivers underpinning the formation of arachnoid cysts in the brain (Nature Medicine).
  • Researchers have mapped mutational signatures in each of the 29 genes that make up the mSWI/SNF complex, with a view to predicting the tumours that may best respond to targeted treatment (Molecular Cell).
  • A study has identified a protein that is responsible for regulation and stabilisation of the p53 tumour suppressor (Cell Reports).
  • Researchers have uncovered the mechanisms through which the blood vessel epicardial substance (BVES) protein contributes to muscular dystrophies (Nature Communications).
  • Many proteins that are uniquely expressed in the brain are linked to human body weight. These factors could explain up to 75% of the variance in BMI in the population (iScience).
  • A new gene therapy has shown promise for treating polycystic kidney disease in murine models of the condition (Nature Communications).
  • Deletion of the Wt1 gene in endothelial cells impairs development of the heart, according to a new study (Development).
  • A study has revealed links between the gut microbiome and the immune response to cancer, suggesting that good diet and probiotic consumption could increase the efficacy of immunotherapy (Cell).
  • A new tool, called Nano-tRNAseq, has been developed to analyse the abundance of and modifications to tRNA in a sample. The technology could be used to assess how tRNA influences human health (Nature Biotechnology).
  • A specialised diet could trigger ferroptosis – a type of programmed cell death – in glioblastoma cells, making the cancer more sensitive to certain treatments (Nature Communications).
  • Scientists have identified a potential genetic link to Ehlers-Danlos Syndrome. A mutation in the MTHFR gene leads to vitamin B9 deficiency and is linked to hypermobility (Heliyon).
  • Analysis of DNA methylation in the blood could predict an individual’s risk of developing type II diabetes (Nature Aging).

In other news:

  • $15 million of funding has been announced for a collaboration between The New York Genome Center, The Broad Institute and UCLA. The institutes are teaming up to create the BD2 Genetic platform to discover genetic and biological factors underpinning bipolar disorder (Bipolar Discoveries).
  • The drug Olaparib is to be offered free of charge on the NHS in England and Wales. The treatment will be used to combat HER2-negative breast cancers and prostate cancers (BBC).