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Genomics Week in Brief: Week ending 9th February

Welcome back to Week in Brief – your comprehensive summary of the latest news from the genomics world and beyond!

This week, researchers published new insights into human development…

  • Researchers have identified genes that act in different areas in the small intestine, leading to identification of five distinct regions. This challenges the ancient idea that the small intestine is formed of three domains (Nature Cell Biology).
  • Researchers have developed a new way to study enhancers, which control gene expression. This allows for a better understanding of the mutations that cause individuals to develop extra extremities or organs (Nature).

There are new updates in the neurological disease field…

  • Researchers have identified an enzyme that could be used to replace CDKL5, a lack of which causes a common form of genetic epilepsy (Molecular Psychiatry).
  • A study revealed that immune cells in blood from Alzheimer’s patients are epigenetically distinct from those of healthy individuals (Neuron).
  • Researchers have revealed that a mutation known to cause ALS and frontotemporal dementia is responsible for dysregulation of immune molecules and heightened inflammation (Science Translational Medicine).

What have we learned about the human immune system this week?

  • An international collaboration has revealed genetic factors that influence an individual’s response to Lassa fever. This has inspired similar research for other viruses, such as Ebola (Nature Microbiology).
  • A previously unidentified genetic disorder has been uncovered, which impairs macrophage function and causes subsequent lung disease (Cell).

Cancer scientists have been hard at work pursuing new treatment options…

  • Scientists have uncovered new mechanisms underpinning the transformation of lung adenocarcinomas into a more aggressive form of the disease. They have also identified potential new treatment targets (Science).
  • Results from a trial in pancreatic cancer cell lines detail the efficacy of a new anti-cancer drug and its impact on the surrounding microenvironment (Cancer Research).
  • A single-cell multi-omics analysis revealed why some cancer patients respond to epigenetic drugs but others do not (Cancer Research Communications).
  • A new test for colorectal cancer performs better at detecting cancer precursors than the current standard test, according to a recent study. This could lead to better disease prediction and detection (The Lancet Oncology).

What other exciting news was published this week?

  • An investigation into the interplay between genetic and environmental risk factors for opioid-use disorder has revealed that non-genetic factors play a larger role in disease risk prediction (Psychological Medicine).
  • A new mapping technique, named the Variant-to-Gene-to-Program approach has shed light on the biological drivers of coronary artery disease (Nature).
  • Finally, a large-scale, international study has revealed a number of genes associated with chronic kidney disease, including some that explain sex-specific differences (Nature Communications).

Check out last week’s Week in Brief here.