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Genomics week in brief: Week ending 1st April

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

Top stories from the past week:

  • Researchers have linked mutations in the protein kinase domain of the PAK1 gene with a newly defined neurodevelopmental disorder (American Journal of Medical Genetics).
  • A new rapid genetic test can better identify treatment targets in prostate cancer patients, making the personalised medicine approach more efficient (The Journal of Urology).
  • An analysis of whole genomes from individuals living at high altitudes in Ecuador has revealed that their ancestors adapted a unique immune response to tuberculosis thousands of years ago (iScience).
  • A study of breast cancer patients who do not harbour known susceptibility genes has led to the identification of disease-causing variants in the ATRIP gene (American Journal of Human Genetics).
  • A machine learning model has been developed that combines genetic and non-genetic risk factors with electronic health data to predict one’s risk of Alzheimer’s disease (Scientific Reports).
  • Blood clotting could be exploited to improve the efficacy of drug delivery to tumours, according to a recent study (Science Advances).
  • Those with a genetic predisposition to stomach cancer are far more susceptible to H. pylori related cancers. The findings could lay the groundwork for the development of new treatments (New England Journal of Medicine).
  • Scientists have discovered that stable reservoirs of HIV DNA exist within monocytes in patients undertaking long-term antiretroviral therapy (Nature).
  • Researchers have uncovered a link between two proteins that are known to be involved in Parkinson’s disease etiology. Palmitoylation of the Syt11 protein – a genetic risk factor for the disease – may increase the aggregation of alpha-synuclein (Science).
  • A 3-dimensional cellular platform has been created for assessing new cervical cancer drugs (Journal of Biomedical Materials Research).
  • The STING signalling pathway plays a key role in metastasis, according to a recent study. Drugs could be developed to target this pathway to prevent the spread of aggressive cancer cells (Nature).
  • Researchers have developed a new therapeutic approach to overcome chemotherapy resistance in colorectal cancer, by adding cell penetrating peptides to the drug oxaliplatin (Journal of Medicinal Chemistry).

In other news:

  • Over 200 children have been cured of Hepatitis C as part of a world-first scheme to identify and treat every patient in England. The country is on track to become the first to eradicate the disease (Guardian).
  • The immunotherapy drug, pembrolizumab, is to be offered to cervical cancer patients on the NHS for the first time (NHS).
  • A new Long COVID and ME/CFS support service has formally launched this week for patients on the Isle of Mann (BBC).
  • Researchers from the Wellcome Sanger Institute are developing technology to monitor genetic changes to circulating respiratory viruses (Guardian)