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Genomics week in brief: Week ending 12th November

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 from the University of Toronto’s Hospital for Sick Children have uncovered 134 genes associated with autism spectrum disorder (ASD). In the largest whole genome sequencing analysis of its kind, data from over 20,000 individuals uncovered a range of variation associated with ASD (Cell).
  • Scientists have for the first time successfully treated a rare genetic disease whilst the patient was still in the womb. Published this week in the New England Journal of Medicine, the report revealed that the young girl, who cannot produce the enzyme to break down glycogen, was delivered the relevant enzyme in utero and is now a healthy toddler (NEJM).
  • 5,072 genes essential to human life and the phenotypic consequences of disrupting these genes have been identified in research published this week in Cell (Cell).
  • Researchers investigating BRCA1/2 associated breast cancers have uncovered new factors which may explain why these cancers recur at a higher rate than expected. This new information may help in understanding treatment-resistance (Nature Communications).
  • A new cause of hyperinsulinism has been discovered by a team at the University of Exeter. Changes to regulatory regions of the genome, rather than in the relevant gene itself, lead to the inappropriate release of insulin in the pancreas (Nature Genetics).
  • Whole genome sequencing of leukaemia patients has identified five distinct subgroups of the disease and relevant recurrent genetic variants, correlating with treatment response (Nature).
  • A high-quality reference genome for a new model of diabetes research has been published. The Nile rat is thought to more closely mirror the development of diabetes in humans than the current standard house mouse, and has potential to be used in research for a range of conditions due to its human-like circadian rhythm (BMC Biology).
  • The development of a single-cell high-throughput test to identify genetic variants associated with disease susceptibility has uncovered a polymorphism which confers increased susceptibility to influenza in humans (Cell Genomics).
  • Researchers have furthered understanding of sudden death in infants and children, using a chromosomal microarray test to identify variants associated with these events. The findings have led to recommendations that the test be used as a routine measure in the investigation of SIDS and SUDC (Advanced Genetics).
  • New mechanisms of resistance to proteasome inhibitors in multiple myeloma have been uncovered. The researchers identified epigenetic mechanisms which play a role in the failure of the drugs (Clinical Cancer Research).
  • Researchers have used DNA barcoding to track the progression of breast cancer cells and discover the mechanisms by which they evade the immune system. Breast cancer is not typically responsive to immunotherapy and understanding why can lead to the identification of more efficient drug targets (Nature).
  • Scientists in Singapore have been successful in genetically modifying plants to increase oil production, improving prospects in the agricultural industry (Science).

In other news:

  • Lab-grown blood has been given to humans for the first time this week. In this groundbreaking clinical trial, two volunteers have been given tiny amounts of the substance to see how the body reacts. If successful, it is hoped that rare blood types could be synthesised in the lab (BBC).
  • Antarctica is facing its biggest COVID-19 outbreak yet. Over 10% of personnel from the US McMurdo Research Station have contracted the virus this week, causing concern in an area where medical resources are limited (Guardian).
  • Scientists have identified a neutron star which breaks the rules of black hole theory. Formed through the merging of two smaller neutron stars, the resultant larger star persisted far longer than astronomers expected before it collapsed into a black hole, challenging our understanding of the universe (Guardian).