Welcome back to Week in Brief, our digest of the latest news from the genomics world and beyond!
Researchers have published a number of discoveries relating to various human illnesses…
- Researchers have confirmed that psoriasis is not caused by spontaneous somatic mutations in the affected areas, unlike other inflammatory conditions like inflammatory bowel disease (Nature Genetics).
- A large-scale genetic study has revealed biological pathways involved in migraines. These could be used as treatment targets in the future (Nature Genetics).
- Two RNA-binding proteins have been implicated in the regulation of asthma-associated inflammation (Frontiers in Cell and Developmental Biology).
- Endometriosis and IBS have common genetic risk factors, according to a new study. This could explain why many people have both conditions (Cell Reports Medicine).
Diversity in research has been a hot topic in this week’s news…
- A collaboration between research institutes including the Broad Institute and Harvard Medical School has been announced. The collaboration, OurHealth, aims to understand the risk of cardiometabolic diseases in those of South Asian descent, a population that has a higher risk of developing these conditions (Broad Institute).
- Researchers have identified a cell type that is responsible for aggressive breast cancer in Black women. This finding will be further analysed in an upcoming clinical trial (Nature Communications).
- Scientists from MIT have developed a new model for generating polygenic risk scores that includes more individuals from diverse backgrounds. This is in contrast to many current models that focus primarily on Europeans (MIT).
What’s going on in your brain? New research reveals how the organ develops…
- The first ‘digital atlas’ of development in each hemisphere of the foetal brain has been published. The atlas was produced using 3D ultrasound scans that were analysed using AI (Nature).
- Using organoids, researchers have identified key genes that influence the development of the primate brain and differentiate it from the mouse brain (Science).
Progress has been made in the gene therapy field…
- Scientists have developed a new method for the transport of large genes into cells. The technique is more efficient than previous methods that relied on DNA splitting (Nature Communications).
- Researchers have used mouse models to investigate the impact of a rare mutation that leaves children paralysed and the potential to rescue the phenotype. This information could lead to gene therapy to treat the condition (Cell Reports).
- A ‘find and replace’ gene editing strategy has been published this week, which could be used to treat severe combined immunodeficiencies (Nature Communications).
Finally, researchers have made key discoveries relating to fertility…
- Research has revealed that having children with someone with common ancestors can have negative, long-term impacts on the fertility of a population due to increased homozygosity (PNAS).
- A single mutation in a gene that is key to meiosis could be a significant cause of male infertility, according to a recent study in mice (Science Advances).
Check out last week’s Week in Brief here!