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Genomics week in brief: Week ending 5th 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:

  • Brain organoid study reveals mechanism behind HUSH gene-silencing complex and how it influences brain evolution via epigenetic regulation (Science Advances).
  • Researchers have leveraged sex differences in the brain to identify optimal treatments for diseases such as multiple sclerosis, Alzheimer’s and Parkinson’s. By disentangling the contribution of sex-specific factors, the hope is that scientists can better optimise treatments for men and women (Journal of Experimental Medicine).
  • Study homes in on specific mutations that allow the Monkeypox virus to evade vaccines. The findings could enable improved or new drugs that reduce the symptoms and spread of the infection (Journal of Autoimmunity).
  • UCL researchers have developed a gene therapy approach that could treat neurological and psychiatric diseases by dampening the activity of brain cells. Importantly, this treatment only targets overactive brain cells, leaving normal cells untouched (Science).
  • Combined exome-wide and genome-wide association study of COVID-19 rare variants across 12 countries identifies mutation in toll-like receptor is associated with sever disease (PLOS Genetics).
  • Single-cell multi-omics analysis reveals that mesenchymal stem-like cells are key regulators of a rare nerve cancer, pointing to potential new druggable targets for this devastating disease (Science).
  • RNA sequencing shows how autism causes widespread transcriptomic changes in the brain, rather than particular areas linked to social behaviour and language. The study is the most comprehensive to date and leads the way in defining the molecular pathology of autism (Nature).
  • A new test for ovarian cancer calculates the risk of women developing the disease based on the level of a blood protein called CA125. When used in clinical trials, the test helped identify women with faulty BRCA genes at an earlier stage (Journal of Medical Genetics).
  • Researchers have used CRISPR genome editing to create Mycn mutant zebrafish models for studying the rare human intestinal disorder, Feingold syndrome type 1. The study has not only uncovered the mechanism driving the disease but also points to a potential strategy for treatment (PLOS Biology).
  • Telmisartan, a blood pressure drug, is associated with lower risk of Alzheimer’s in Black patients over 60 years of age. The finding is the result of analysing the data from more than 5 million patients and highlights the need for ethnically diverse patient cohorts in similar studies (Alzheimer’s & Dementia).
  • A specific microRNA, miR-145, can help identify breast cancer patients at higher risk of recurrence and mortality and could aid clinicians in tailoring treatments (JACS).
  • Researchers at the University of Vermont and Dartmouth have discovered that mutations in the PTEN gene cause neuronal changes in autism, and that targeting these changes with the drug Rapamycin can reduce these effects (Cell Reports).  

In other news:

  • This week, the UK Biobank took one step closer to reaching its ambitious aim of imaging the internal organs of more than 100,000 participants and combining this with genetic and lifestyle data (UK Biobank).
  • Genomics study provides insights into how we can predict the adaptive capacity of key wildlife species in response to rapid climate change in the future (Nature).