Written by Lauren Robertson, Science Writer.
Check out the latest Genomics Week in Brief – full of intriguing news and research from the genomics space!
Top stories from the past week:
- New CRISPR-Cas approach (SpRYgests) allows DNA to be cut outside of PAM regions, expanding the utility of gene editing and offering potential new clinical applications (EurekAlert).
- Diabetes drug metformin found to work as a treatment for atrial fibrillation. Researchers used advanced computation and genetic sequencing determine that metformin’s targets overlap with dysregulated atrial fibrillation genes (Cell Reports Medicine).
- In the largest ever genome-wide association study to date, the DNA from over 5 million people has revealed a powerful genetic predictor of height (Nature).
- Multi-centre study finds that invasive lobular carcinoma (the second most common breast cancer in the US) is detected later and has worse outcomes compared to the predominant breast cancer type, invasive duct carcinoma (EurekAlert).
- Nociceptor neurons have been found to signal intestinal goblet cells to drive mucus secretion and gut protection, a process that helps protect the gut mucosal barrier (Cell).
- New Devon-based rapid WGS testing service could transform how rare genetic conditions are diagnosed in seriously ill children and babies (BBC).
- MatchMiner computer platform reduces the time it takes clinicians to match patients with appropriate targeted therapies based on genetic alterations in tumours (npj Precision Oncology).
- Observing invasion patterns in mucinous ovarian cancer enables researchers to better predict which treatment strategies will be most successful in early-stage patients (Clinical Cancer Research).
- Study finds that cancer cells produce additional centrosomes to help them migrate into new tissues and metastasise (Journal of Cell Biology).
- Genome sequencing identifies new mitochondrial disease in twins. The condition is caused by a mutated enzyme (ATP synthase) required for ATP synthesis and storage (New England Journal of Medicine).
- Mouse model reveals how RNA splicing defects can contribute to neurodegenerative diseases such as Alzheimer’s. The defects are a result of dysfunction in the small ribonuclear protein, U1 (Nature).
- Deep-learning helps integrate whole-body single-cell transcriptomic data from model organisms and identify conserved regulatory programs underlying cell types (Nature).
In other news:
- The NHS has revealed its first ever strategy for implementing genomics into clinical care over the next five years. The hope is that the investment in the NHS Genomic Medicine Service will accelerate the next generation of healthcare in the UK’s national healthcare service (NHS England).
- Results from the first studies to be published as part of the Global Biobank Meta-analysis Initiative reveal how and why to make GWASs more representative (EurekAlert).