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Genomics week in brief: Week ending 1st October

Check out the latest Genomics Week in Brief – full of intriguing news and research from the genomics space!

Top stories from the past week:

  • Experimental Alzheimer’s drug from Eisai and Biogen able to slow cognitive and functional decline in large trial of patients with early-stage disease. The drug slowed progress by 27% compared with placebo and represents a breakthrough for treatment of the neurodegenerative disease (Reuters).
  • Identification of immune markers in chemotherapy-resistant early breast cancer may offer new hope for patients. Researchers suggest immunotherapy approaches could provide a benefit for certain high-risk patients (Institute of Cancer Research).
  • Single nucleus RNA sequencing reveals how cells in spinal cord respond to thoracic injury in mice. The resulting single-cell atlas of these dynamic responses could uncover potential targets for targeted therapy in the future (Nature).
  • Transcriptional signature captures RAS oncogenic activity in lung adenocarcinoma and enables better patient stratification compared with decisions based on genetic alterations (Nature).
  • New rat model elucidates the role of a TFG mutation in hereditary spastic paraplegias (a group of rare neurodegenerative diseases that affect children). The improved model could enable researchers to test therapeutics for this group of diseases (PNAS).
  • Study shows that two-year survival rate for advanced melanoma improves by as much as 20% when immunotherapy is given prior to targeted therapy (EurekAlert).
  • Machine learning tool discovers specific pattern of DNA mutations linking tobacco smoking with bladder cancer. This is the first signature to link smoking with bladder cancer (EurekAlert).
  • Researchers identify target genes responsible for the growth promoting effects of the MYC oncogene (Nature).
  • Study uncovers the role of oxidative DNA damage repair in protecting us from neurological disorders such as dementia (Nature).
  • High-definition liquid biopsy accurately identifies “oncosomes” (nano-sized biomarkers of cancer) in early-stage breast cancer patients. The hope is that these findings could aid the future diagnosis of cancer in the early stages (Nature).
  • Plasma proteomic signature of individuals could identify those people at risk of suffering from long-COVID (Lancet).
  • CAR-T therapy has been proven to be effective in treating invasive fungal infection of the lungs. The results support the further development of CAR T cells for treating diseases other than cancer (Science).
  • Single-cell atlas of human brain organoids reveals they are able to accurately replicate many of the processes that occur in a developing human cortex (Cell).

In other news:

  • Illumina has announced the launch of its NovaSeq X Series – a range of production-scale sequencers that promise to sequence an entire genome for just $200. According to Illumina, the new technology has the power to sequence more than 20,000 genomes per year (PR Newswire).
  • NHGRI launches initiative aiming to systematically investigate the function of every human gene. Phase 1 of the Molecular Phoenotypes of Null Alleles in Cells (MorPhiC) programme will focus on 1,000 protein-coding genes, eventually exploring the consequences of inactivating each gene (NIH).