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Genomics Week in Brief: Week ending 8th December

Want to catch up with all the latest news from the genomics world? Then Week in Brief is the place for you!

This week, scientists published discoveries about the immune system…

  • Using gene editing to inhibit the WNK1 protein, which has been previously implicated in the T cell response to infection, researchers have determined that an influx of water and ions assists in immune cell migration (Nature Communications).
  • Researchers from the Broad Institute have used single-cell RNA sequencing to create a ‘dictionary’ of immune cell responses. This resource will further our understanding of how immune cells respond to infection and cytokine signals (Nature).
  • And in another study that aims to increase our knowledge of the immune system, scientists have developed a method to identify unique immune receptors that play a role in human disease, using spatial transcriptomics (Science).

Gene therapy has yet again found itself in the spotlight…

  • Replacing a faulty gene linked to arrhythmogenic cardiomyopathy has shown positive results in disease models. Due to these results, human trials will begin next year (Nature Cardiovascular Research).
  • Researchers have developed a gene therapy that could be used to treat spinal muscular atrophy, by activating a gene paralogous to the faulty SMN1 gene that causes the condition (Nature Biomedical Engineering).
  • Scientists have identified a pathway implicated in the immune response to adeno-associated vectors in the liver. This finding could be exploited to prevent unwanted responses to gene therapies, making the process more efficient (Molecular Therapies).

The microbiome has been further implicated in human health…

  • Scientists have called for action surrounding the use of pesticides this week, due to associated microbiome changes that have been linked to the onset of Parkinson’s disease. This comes in the wake of renewed approval of the herbicide glyphosate in the EU (IOS Press).
  • A recent study has revealed that consuming flaxseed could lead to microbiome changes that impact the expression of miRNAs in the breasts. This could in turn alter an individual’s risk of breast cancer (Microbiology Spectrum).

We’ve learned even more about the role of genetics in human disease…

  • Researchers have used saturation genome editing to characterise thousands of disease-causing variants in the DDX3X gene. The findings have been made available to clinicians for immediate use in the diagnosis of neurodevelopmental disorders and certain cancers (Nature Communications).
  • Scientists have developed a method to determine whether pairs of mutations occur on the same chromosome or on different chromosomes. This finding could aid the diagnosis of rare disease (Nature Genetics).
  • A study has revealed that a mutation in an insulin release receptor may impact one’s susceptibility to obesity (Molecular Metabolism).

What else has gone on this week?

  • Scientists have used single-cell genomics to characterise cells in human precision-cut lung slices, a recently developed model for lung diseases. These findings could help advance the model further, overcoming the notoriously difficult to model nature of the human lung (Science Translational Medicine).
  • A large-scale study identified regions of the human genome that are highly conserved and likely to be under natural selection. Moreover, variation in these areas is more commonly linked to harmful disease outcomes (Nature).
  • An atlas of human limb cells has been published this week. It has uncovered details about human development and certain conditions that impact the limbs (Nature).
  • Finally, the Genomics Nation 2023 report was published this week. It shows that the UK is a global leader in genomics and highlights areas where improvements could be made to further benefit patients (Sanger Institute).

Check out last week’s Week in Brief here.