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Genomics Week in Brief: Week ending 1st December

It’s been a busy week in the genomics world, and we know that keeping up can be tough. In Week in Brief, we’ve summarised the latest developments, so you only need to look in one place!

A landmark development could transform the genomics research landscape as we know it…

  • This week, UK Biobank released whole genome sequences from 500,000 volunteers – the largest dataset of its kind. This resource will facilitate healthcare research that was previously impossible (UK Biobank).

Pathogen surveillance has been in the spotlight this week…

  • Using portable sequencing technology, scientists have developed a method to analyse genomes of malaria parasites from blood samples in 48-hours. This will allow for the development of real-time interventions in response to parasite evolution and drug resistance (Wellcome Sanger Institute).
  • The UK has reported its first human case of the H1N2 swine flu virus this week. It was reported that the individual was not seriously ill, and experts are carrying out contact tracing and surveillance (BBC).

We’ve learned more about the mechanics of aging…

  • Researchers have identified a new drug target for killing senescent cells, which could play a role in tackling a number of age-related conditions (Nature Cell Biology).
  • New research has revealed that social determinants of health, such as education level and socio-economic status, may contribute to epigenetic changes that increase the rate of biological aging (American Heart Association).
  • Furthermore, epigenetic changes could be used as a biomarker for accelerated aging and cognitive decline in those who suffered early life adversity (Neurobiology of Stress).

As another week goes by, we’ve seen even more updates in the cancer research sphere…

  • Scientists have elucidated the 3D-protein structure that allows peptide-centric CAR-cells to recognise human leukocyte antigen complexes and target cancer cells. This finding could allow scientists to develop CAR-T cell therapies for a broader range of malignancies (Science Immunology).
  • A gene therapy that silences an overexpressed protein in a subtype of liver cancer was shown to be effective in mice (Acta Pharmaceutica Sinica B).
  • Mini organs grown in the lab present a promising avenue to rapidly identify genes associated with tumour growth, according to a new study published this month (Cell Reports).

There have also been new publications in the mental health and psychiatry space…

  • A thesis published by a PhD student at the Karolinska Institute has detailed how environmental and genetic factors play a role in eating disorder risk, and how the COVID-19 pandemic impacted patients (Karolinska Institute).
  • A large-scale study has identified 27 loci linked to use of sleeping aids, and investigated associations to psychiatric disorders (SLEEP).
  • In a recent study, researchers analysed thousands of variants linked to stress, revealing molecular mechanisms underpinning different stress-related disorders (PNAS).

What about other areas of human disease?

  • A large-scale genetic study has shown that the use of thiazide diuretics is an effective treatment for kidney stone prevention. This is a common treatment for the condition, but had previously been brought into question after recent clinical trial results (JAMA Network Open).
  • Finally, a genome-wide association study has revealed a variant associated with recovery in heart failure patients. The variant could be used as a drug target going forward (Circulation Research).

Check out last week’s Week in Brief here.