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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. Register here to watch the webinar live or on-demand.
  • 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. Register here.
  • 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. Register here.


  • Check out the latest ‘Sequencing Buyer’s Guide’ which will help you understand the sequencing landscape and make better purchasing decisions. You can download the guide for free here.
  • Download our latest report – ‘Multi-omics: An integrative approach to biomedical research’. This report explores the motivations behind embarking on such studies, highlights some of the recent success stories, and discusses methods for approaching analysis. Get your free copy of the report here.

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