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Genomics Week in Brief: Week ending 16th September

Welcome back to Week in Brief, our digest of the latest news from the genomics world and beyond!

We have seen new updates in the cancer research world this week…

  • A transcriptome-wide association study has revealed new risk factors for colon cancer (JNCI).
  • A new study has revealed the molecular mechanisms underpinning resistance to immunotherapy in certain cancers. The findings could inform treatment plans by identifying which patients may or may not benefit from the therapy (Nature Genetics).
  • Researchers have warned that receiving BRCA-screening results outside of a clinical setting, such as using at-home testing kits, without taking family history into account could lead to women undergoing unnecessary preventative procedures (eClinicalMedicine).

Antimicrobial resistance is one of the world’s biggest threats. Check out what’s gone on in that research sphere this week…

  • A large-scale genomic study has revealed distinct networks of syphilis transmission in England. The work also highlighted significant antibiotic resistance (The Lancet Microbe).
  • A metagenomic analysis has revealed that antimicrobial-resistant bacteria associated with hospital acquired infections are present in wastewater systems (The Journal of Hospital Infection).

As COVID-19 cases rise, researchers seek to combat the disease…

  • Moderna have developed an improved version of the mRNA-based SARS-CoV-2 vaccine that expresses only the N-terminal and receptor binding domains of the viral spike protein (Science Translational Medicine).
  • Over 45,000 healthcare workers will be involved in an expansion of the UK’s SIREN study this winter, in order to keep track of respiratory pathogens and new variants of SARS-CoV-2 (Wellcome Sanger Institute).

There have been some interesting studies in the psychiatry field this week…

  • Single-cell screening in brain organoids has revealed developmental defects linked to autism spectrum disorder (Nature).
  • Using a massively parallel reporter assay approach, researchers have pinpointed a number of genetic variants that actively alter gene expression in schizophrenia patients (Cell Genomics).

And cardiovascular health has been in the spotlight…

  • Scientists have discovered genetic variants that interact both with one another and their environment to alter cholesterol levels and other cardiovascular disease risk factors (Cell).
  • A multi-omics study has identified a significant number of candidate effector genes for hypertension (American Journal of Human Genetics).

What else has gone on this week?

  • The Wellcome Sanger Institute’s Tree of Life Programme has produced genome sequences for over 1,000 different species (Wellcome Sanger Institute).
  • Researchers have characterised a specialised immune cell that plays a protective role in the gut and is depleted in inflammatory bowel disease patients (Science).
  • A study has revealed that, in Parkinson’s disease, dopaminergic synapses become dysfunctional prior to degeneration of the cells themselves (Neuron).

Check out last week’s Genomics Week in Brief here!