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Genomics Week in Brief: Week ending 26th January

It’s been a busy week with the Festival of Genomics and Biodata taking place in London, but there was plenty of research going on elsewhere! In this Week in Brief, we explore the latest news.

Scientists have been working hard using genetic data to predict disease development…

  • A new technique, dubbed ‘causal-Transcriptome-wide Association studies’, uses GWAS data and advanced statistical methods to more accurately predict which genes are involved in disease (Nature Genetics).
  • A combination of retinal imaging and genetic data can be used to predict an individual’s risk of systemic diseases, according to a new study (Science Translational Medicine).
  • Researchers have developed a new machine learning approach, named IntelliGenes, for biomarker discovery and disease prediction (Bioinformatics).
  • Researchers have performed a large-scale study of androgen binding sites in 300,000 individuals to predict the risk of death from prostate cancer – before the disease even develops (Nature Communications).
  • 13 biomarkers have been identified that can predict the risk of cardiovascular disease in type 2 diabetes patients (Nature Communications).

And how exactly can the knowledge of genetic risks be used to mitigate health problems?

  • Researchers have identified a gene on chromosome 21 that is responsible for heart defects in those with Down syndrome. An experiment in mice showed that reducing the activity of the gene could potentially reverse this phenotype (Science Translational Medicine).
  • A mutation that causes an aggressive form of melanoma may play a role in the growth of heart tissue. This finding could be used as a treatment after heart attacks (Science Advances).
  • A GWAS has revealed that drinking milk can lower the risk of type 2 diabetes for individuals harbouring genetic variants in the lactase gene (Nature Metabolism).
  • An experimental gene therapy has successfully cured a patient’s hereditary hearing loss in an initial study (CHOP).
  • Using CRISPR, scientists have developed a method to activate disease-associated genes in accessible cell types, such as blood, in a bid to understand splicing irregularities in difficult to reach tissues like nerves (AJHG).

What else has been in the news this week?

  • The Wellcome Sanger Institute and Stellenbosch University’s Centre for Epidemic Response and Innovation – two leading centres for COVID-19 surveillance – have announced a partnership for the genomic surveillance of pathogens internationally (Wellcome Sanger Institute).
  • Finally, scientists have identified mutations in Salmonella that impact the virulence of the pathogen and allow it to go undetected in the body for years (Cell Host and Microbe).

Check out last week’s Week in Brief here.