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Genomics Week in Brief: Week ending 5th January

Welcome back to Week in Brief! The first week of 2024 has been packed full of exciting new developments – let’s take a look below.

Unsurprisingly, artificial intelligence remains in the spotlight in 2024…

  • A new AI tool can assess medical images at single-cell resolution to identify gene activity linked to disease (Nature Biotechnology).
  • Using over 9 million SARS-CoV-2 genome sequences, researchers have developed a machine learning model to predict which variants have the potential to cause new waves of infection (PNAS Nexus).
  • However, a study has shown that ChatGPT was not effective at making accurate diagnoses when provided with paediatric case studies. This is despite previous positive reports of the AI tool’s diagnostic capabilities (JAMA Paediatrics).

We’re already seeing updates in the cancer research field…

  • A rare type of immune cell could be the key to predicting immunotherapy response in skin cancer patients, according to a recent study (Nature Cancer).
  • Scientists have developed the first international criteria for the standardised use of amino acid PET scans, which can be used to image diffuse gliomas (The Lancet Oncology).

Maternal and foetal health has been in the news this week…

  • A large-scale genetic study has identified several circulating proteins associated with pre-eclampsia and hypertensive disorders of pregnancy. These findings have the potential to transform maternal-foetal care (JAMA Cardiology).
  • Two proteins have been identified as having a key role in foetal bone development, in a recent mouse study. This could influence our understanding of conditions such as brittle bone disease (Developmental Cell).
  • Furthermore, a proof-of-concept study has demonstrated the effectiveness of a blood test to assess foetal genes for a wide range of genetic conditions (NEJM).

There has been news from the drug discovery and development world…

  • A new ‘genetic priority score’ has been developed that could assist in the prioritisation of drug targets. The use of this new metric could help reduce the time and cost of drug discovery and development (Nature Genetics).
  • A study has addressed the avenues through which clinicians become aware of and manage drug-drug interactions, ultimately influencing treatment decisions. The authors make new recommendations to enhance patient safety (BMJ Open).
  • Scientists have also identified and optimised a novel antibiotic class that could be effective against highly drug-resistant bacteria (Nature).

What else has been in the news this week?

  • Researchers have developed a method to regulate expression of genes that are manipulated via gene therapy, allowing for better control over the therapeutic process (Nature Biotechnology).
  • A meta-analysis has revealed that host genetics play a significant role in the diversity of the gut microbiome, providing new insights into the relationship between human hosts and microbiota (Nature Genetics).
  • FInally, new research has revealed genetic associations between anorexia nervosa and the circadian clock. The findings contrast with many other mental health disorders, which are linked to an eveningness chronotype, whereas anorexia nervosa was linked to a morning chronotype (JAMA Network Open).

Check out last week’s Week in Brief here.