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Genomics Week in Brief: Week ending 14th October

Welcome back to Week in Brief – your weekly snapshot of the genomics world! Let’s take a look at the biggest news from the last seven days.

Curious to know what’s going on in the brain?

  • A study has revealed that inflammation in children’s brains could lead to the onset of neurodevelopmental disorders. This is because the inflammation prevents the maturation of neurons (Science Translational Medicine).
  • Researchers working across two projects have developed the most comprehensive atlases of human brain cells to date. The projects used single-cell technologies and form part of the Human Cell Atlas initiative (Science1,2).

Artificial intelligence has great potential in healthcare. What’s new in the field this week?

  • Researchers have developed an AI tool that can predict viral evolution. This technology could be used to make inferences about emerging variants, such as in the COVID-19 pandemic (Nature).
  • Scientists have developed an AI model that can identify patterns in the speech of schizophrenia patients. Should the technology make it to the clinic, it could transform the diagnosis of this neurological condition (PNAS).
  • The PANCAIM Project, which started in 2021 and aims to improve pancreatic cancer treatment, has developed an AI algorithm for earlier detection of the disease (University of Glasgow).

Immunotherapy is a promising avenue for cancer treatment, but it still needs to be refined. Let’s take a look at some recent studies addressing this issue…

  • A new platform has been preclinically validated that could be used to identify patients most likely to respond to immunotherapy by assessing gene expression levels (Med).
  • A clinical trial has suggested that liquid biopsy could be used to assess response to immunotherapy in patients with non-small cell lung cancer (Nature Medicine).

Scientists have been hard at work investigating various human conditions…

  • A significant number of people suffering from chronic regional pain syndrome have a genetic susceptibility to the condition. The research also implied that sex-specific differences explain why the condition is more prevalent in women (Journal of Medical Genetics).
  • Fragile X syndrome likely begins to develop before birth due to a deficiency in a protein essential for brain development. The work also suggests that drugs to enhance mitochondrial function could therefore be used to treat the condition (Neuron).
  • Researchers have identified underlying genetic causes of Raynaud’s phenomenon, a finding that could contribute to effective treatment for the condition (Nature Communications).

What else has been going on this week?

  • Research has uncovered the ways in which the gut microbiome plays a role in driving the development of certain immune cells (Science Immunology).
  • A large-scale study using UK Biobank data has revealed novel associations between rare genetic variants and expression of plasma proteins. These findings could have significant implications for drug discovery (Nature).
  • A study has revealed that a number of common risk factors for dementia are more likely to have an effect in black and Asian individuals (PLOS).
  • Researchers have created the most accurate test to measure biological aging to date. The test, which assesses an individual’s biological clock, was developed off the back of a study into kidney disease (Journal of Internal Medicine).
  • Researchers from the NIH have developed a method to preserve fertility in those undergoing treatments, including gene therapy, for conditions such as sickle cell disease (Nature Communications).

Check out last week’s Week in Brief here!