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Genomics week in brief: Week ending 21st November

We’ve got you covered with another round up of the top genomics news and research from around the world from the past week!

Top stories from the past week

  • CLCN6 has been identified as a disease gene for a severe form of lysosomal neurodegenerative disease. (Jentsch et al, 2020)
  • Researchers have reported the differential effects of mutations in BRCA1 and BRCA2 genes in response to immune checkpoint blockade. They found that these mutations led to distinct mutational landscapes and differentially modulated the tumour-immune microenvironment. (Riaz et al, 2020)
  • By expressing neuron-enriched mitochondrial proteins at an early stage of the direct reprogramming process, researchers were able to achieve a four times higher conversion rate and simultaneously increased the speed of reprogramming. (Russo et al, 2020)
  • A team of researchers have used cerebral organoids to identify cell type specific driver genes associated with complex diseases. (Church et al, 2020)
  • Researchers have demonstrated the effectiveness of using RNA sequencing in detecting measurable residual disease and tracking clonal dynamics. (Kim et al, 2020)
  • Researchers have discovered that pathological tau functions through demethylase LSD1 are linked to downstream neuronal dysfunction pathways in Alzheimer’s disease. (Katz et al, 2020)
  • First human study shows that hyperbaric oxygen therapy increases telomere length and decreases immunosenescence in isolated blood cells. (Efrati et al, 2020)
  • A new study finds a missense variant in SLC39A8 that confers risk for Crohn’s disease by disrupting manganese homeostasis and intestinal barrier integrity. (Xavier et al, 2020)
  • Researchers found that bacterial changes in the gut increased the levels of imidazole propionate, the molecule that makes the body’s cells resistant to insulin in type 2 diabetes. (Molinaro et al, 2020)
  • Scientists have discovered how a common virus in the human gut infects and takes over bacterial cells. These findings could be used to control the composition of the gut microbiome, which is important for human health. (Sokolova et al, 2020)

In other news

  • The WHO launched a global strategy to accelerate the elimination of cervical cancer. Their strategy outlines three key steps: vaccination, screening and treatment. (WHO, 2020)
  • The National Genomic Research Library (NGRL) now contains one of the richest genomic datasets for both rare disease and cancer research in the world, following the curation and addition of all consented genomes from the UK’s 100,000 Genomes Project. (Genomics England, 2020)


  • Join us this week for the final webinar in our ‘Single Cell ONLINE’ webinar series. In this webinar, we will be exploring the use of single cell analysis for genetic risk studies.
  • Rare disease patients say they’ve been all but forgotten during the COVID19 pandemic. We are proud to be media partners of RAREfest20, a vibrant, vital and virtual festival putting them back in the spotlight. Festival-goers will enjoy a feast of science, tech and stories from experts in rare disease!