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Genomics week in brief: Week ending 29th October

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

Top stories from the past week:

  • Analysis of phase 2 trial data reveals why some patients do not respond to immunotherapy treatment. It appears fault DNA repair mechanisms are to blame – and the finding could aid the development of better treatments for patients (Cancer Discovery).
  • Researchers have discovered a genetic switch that appears to control a key diabetes gene. Unlike promoters or enhancers, this DNA regulatory element seems to play a role in stabilising the production of long non-coding RNAs (News Medical).
  • Ancient viral DNA – known as endogenous retroviruses – has been found to provide a form of immunity and protect humans from modern infections (Science).
  • Stem cell research has led to the first direct evidence that a rare blinding disease – known as Stargardt disease – is caused by gene mutations in the retinal pigment. The authors hope the finding could accelerate the development of new therapies where there currently are none (Stem Cell Reports).  
  • Two studies highlight the role of a “central executioner” in neurodegenerative diseases that seems to kill axons and re-wire the nervous system. Blocking this molecule’s ability to drive neuroinflammation could lead to new treatments for a range of neurodegenerative diseases (Journal of Clinical Investigation).
  • Researchers have used a CRISPR-Cas system to repair gene mutations in patients with CTLA-4 insufficiency (a lack of regulatory and effector T cells) (Science).
  • New clinical trial results show how 22% of patients treated with the AKT inhibitor drug ipatasertib saw their tumours shrink – this includes breast, endometrial, anal and salivary gland tumours (EurekAlert).
  • Research from Great Ormond Street Hospital has provided evidence that CRISPR/Cas9 can successfully engineer “universal” donor T cells for children with treatment resistant leukaemia (EurekAlert).
  • Reprogrammable ADAR sensor technology has enabled MIT scientists to detect RNA sequences in live cells and produce a protein in response. The technology has even be used to target and kill specific cells, and could be used in future cancer research (Nature).
  • A new prodrug form of curcumin, TBP1901, has shown anti-tumour effects with zero toxicities, opening the door to future drug development (European Journal of pharmacology).
  • Single-cell whole genome sequencing was used to identify mutational processes, including cell-to-cell structural variation, in cancer that lead to genomic variation (Nature).
  • A computational approach determines the influence of rare copy-number variations on human complex traits using a UK Biobank cohort (Cell).

In other news:

  • UK’s oldest human DNA reveals that there were two distinct groups that migrated to Britain at the end of the last ice age (Nature).
  • PacBio has announced two new sequencing systems – Onso for accurate short-read analysis and Revio for revolutionary new long-read sequencing. The Onso benchtop platform is anticipated to enable unprecedented accuracy for short-read DNA sequencing using the company’s unique sequencing by binding technology. Revio is designed to provide 15 times more HiFi data and human genomes at scale for under $1,000 (PacBio).
  • Complete Genomics (part of MGI) launches next-generation sequencing technology, DNBSEQTM. The technology is available on all sequencing platforms and enhances sequencing capabilities by eliminating index hopping and clonal errors during the sequencing step (MGI).