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Genomics week in brief: Week ending 8th May

We have got you covered for another week with all the latest genomics news and research – here – all in one place!

Top stories from the past week

  • Researchers have identified mutations in GEMIN5 that can cause a rare neurological disorder marked by developmental delay and loss of coordination. (Kour et al, 2021)
  • A Penn Medicine study has shown links between mutations in the GAS2 gene and the ability to amplify incoming sound. (Chen et al, 2021)
  • NIH researchers have found a small molecule cocktail that can protect stem cells from stress in order to improve stem cell use in research. (Chen et al, 2021)
  • Researchers have built the first atlas of all the different cell types in a reef-building stony coral – Stylophora pistillata. (Levy et al, 2021)
  • A gene therapy for Alzheimer’s disease has shown to preserve learning and memory in a mouse model. (Wang et al, 2021)
  • John Hopkins researchers have developed a new technology that can detect rare mutations in the blood. This technology overcomes the inefficiencies and high error rates common among NGS techniques. (Cohen et al, 2021)
  • Researchers have mapped the gene activity of osteocytes to improve our understanding of skeletal disease. (Youlten et al, 2021)
  • A recent study has found that a new mutation in a gene associated with an increased risk of atrial fibrillation poses an increased risk for heart failure among Black people. (Chalazan et al, 2021)
  • Researchers have demonstrated that females with mutations in the EPHB2 gene may be at increased risk of autism. (Assali et al, 2021)
  • Scientists have developed a highly efficient method that enables them to identify regulatory elements. (Cheng et al, 2021)
  • New findings provide potential genetic targets for altering progression of Parkinson’s disease. (Liu et al, 2021)
  • A new study has challenged existing knowledge about gene transcription, revealing that bacterial DNA can be read both forwards and backwards. (Warman et al, 2021)

In other news

  • Two pharmaceutical companies (Roche and Wave Life Sciences) have halted clinical trials of antisense oligonucleotide therapies for Huntington’s disease, following the drugs’ disappointing performance. (Kwon, 2021)
  • Scientists have begun research aimed at setting up a prostate cancer genetic testing and screening service in the UK. (McKie, 2021)


  • Make sure you join us for our brand-new webinar series – ‘Genomics in Drug Discovery & Development’. In this series, we explore the role of genomics in modern day drug discovery and development. The first webinar is taking place on Thursday 13th May at 3pm BST/4pm CEST/10am EST.
  • Catch up on our ‘COVID & Genomics ONLINE’ series. In this series, we shared the latest research and insights into key aspects of the pandemic and how genomic data is shaping our response.
  • Catch up on our three-part webinar series ‘Cancer Genomics ONLINE’, which explored the latest work from global researchers who are mapping the cancer genome and leading the fight against this disease.