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Week in Brief: Week Ending 5th July

Happy Monday everyone, and welcome back to Week in Brief, your stop for all the latest genomics news!

Blood disorders have been in the news this week…

In an experiment in mice and monkeys, a small molecule has shown promise in increasing expression of foetal haemoglobin. This is a step forward in the development of an oral drug to treat sickle cell disease (Science).

Scientists have created a new mouse model of alpha thalassemia using lipid nanoparticle technology. Lentiviral gene transfer was then seen to rescue the phenotype, pointing towards a potential therapy for humans (Blood).

Genomic surveillance has shed new light on pathogen spread…

A combination of genomics and anonymised travel data from mobile phones can help to track pathogen spread and the evolution of antimicrobial resistance. This is according to a new study, which analysed the spread of bacteria responsible for pneumonia and meningitis (Nature).

Genomic surveillance of E. coli in Pakistan has revealed that the different strains of the pathogen dominate in this region compared to Western nations (Nature Communications).

Large-scale studies have informed cancer research…

Researchers have used saturation genome editing to map all possible changes to the tumour-suppressor VHL. This work could help in predicting patient risk and developing personalised treatment strategies (Nature Genetics).

In addition, the same technique was used to map thousands of changes in the BAP1 gene, around 20% of which were pathogenic. These findings have been made available to clinicians for use in diagnostics and treatment (Nature Genetics).

Researchers have used AI to find potential cancer drivers in often overlooked ‘junk’ areas of the genome. The findings suggest these non-coding areas could play a role in the development of several cancer types (Nucleic Acids Research).

What else has been going on?

Last week, the first ever UK guidelines for the generation and use of stem cell-based embryo models in research were published. This marks a transformative moment in development research (The Francis Crick Institute).

A transcriptomic biomarker has been identified that could be used to predict adverse drug reactions in patients with multidrug resistant tuberculosis (Pathogens and Immunity).

Scientists have discovered a new mutation, more common in Finland than in other regions, that impairs insulin secretion and increases diabetes risk (Diabetologia).

Finally, a novel transcription factor has been identified, which is used by embryos to protect their mother from cellular stress. The finding could be used to inform aging and neurodegenerative disease research going forward (Genes and Development).

Check out last week’s Week in Brief here.