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Genomics Week in Brief: Week ending 24th November

Got five minutes to catch up on the latest genomics news? You’re in the right place!

This week has seen new developments in testing and diagnostics…

  • Researchers have developed a method to assess areas of the human genome where expression can be measured via medical imaging. The technique involves a combination of AI, RNA-seq data and molecular imaging methods (Nature Communications).
  • Scientists have developed a non-invasive prenatal genetic test that can capture both variants inherited from the mother and novel variants in the foetus (NEJM).

And gene editing news hasn’t slowed down in the wake of last week’s big announcement…

  • Researchers have identified an off-target effect associated with gene editing in a cancer cell line frequently used in CRISPR screens. This highlights a need to be cautious about the side effects of gene editing (Life Science Alliance).
  • Using mini organs, scientists have developed a potential gene therapy approach to treat the rare DOOR syndrome (Genome Biology).
  • A gene therapy that reactivates foetal haemoglobin expression using base editing could be used to treat blood disorders like sickle cell disease (Cell Stem Cell).

There has been a lot going on in the cancer research world…

  • Scientists have developed potent small molecular inhibitors that target a key gene in ovarian cancer. The work validates a novel therapeutic target for the disease (Science Advances).
  • Results of a Phase III clinical trial support a new ‘gold standard’ in precision radiotherapy for head and neck cancers. Current treatments can result in long-term problems with swallowing and the use of feeding tubes (Institute of Cancer Research).
  • A study has revealed that the scar tissue surrounding a certain type of pancreatic tumour can be used to predict long-term outcomes for patients (Cell Reports Medicine).

What else has been going on?

  • Using intestinal organoids, a gene has been identified that plays a key role in stem cell differentiation (Science Advances).
  • A large-scale genome-wide study has identified links between cannabis-use disorder and a variety of physical and mental conditions (Nature Genetics).
  • How did man’s best friend come to be? It has been announced that researchers at the Francis Crick Institute will receive a €2m grant to investigate the genetic ancestry of dogs (Francis Crick Institute).
  • Finally, researchers have identified 29 novel regions of the genome associated with human head shape and disorders of the skull, such as craniosynostosis (Nature Communications).

Check out last week’s Week in Brief here.