What’s been going on in the life sciences world this week? Check out Week in Brief for an overview of the biggest news from the last seven days.
Researchers have mapped the interactions between DNA-guided transcription factors. These new findings shed light on the complexity of gene regulation and development.
New research has revealed that an abnormal fusion between two genes, which is known to cause chronic myeloid leukemia, can arise years before diagnosis. In addition, the resulting cancer cells expand rapidly compared to other cancer types.
A study has revealed the role of an immune checkpoint inhibitor in microglia. In preclinical models, targeting this inhibitor was seen to help with clearing amyloid plaques in the brain, opening potential avenues for Alzheimer’s treatment.
Reference genomes for six species of ape have been published, allowing for a better understanding of primate evolution. When compared to each other, and to the human genome, the differences were greater than previously predicted.
New candidate genes linked to congenital deafness have been identified. It was revealed that a transcription factor previously linked to deafness regulates expression of these target genes in birds, with the findings also reflected in humans.
A systematic analysis of all human genes using CRISPR interference has revealed a significant number of genes linked to Parkinson’s disease. Combinations of these genetic factors modulate disease pathology and explain why some individuals with certain mutations develop the disease whilst others do not.
Using data from seven tumour types from the 100,000 Genomes Project, researchers have developed a tool that can detect targetable mutations in cancer cells. This method could be used to identify the correct treatment for different patients and predict disease outcomes.
Researchers have identified over 300 conditions that can be diagnosed using genome sequencing either before or shortly after birth. The authors of the study propose that a ‘treatable fetal findings list’ be created, which can be used as a starting point to identify potential early interventions.
Advanced computational methods have been used to pinpoint genes linked to childhood- and adult-onset asthma. The study identified causal, regulatory and effector genes.
A large-scale GWAS meta-analysis – using data from nearly 2 million individuals – has identified over 900 independent associations to osteoarthritis. The study, which also utilised single-cell multiomics analysis, revealed a significant number of potential new drug targets.
Scientists have developed a new gene editing tool using reprogrammed retrotransposons. This method can be used to insert entire genes into the genome rather than targeting specific mutations one at a time, simplifying the process.
Finally, a study has shown that long-read sequencing can be used to identify the genetic causes for complex psychiatric disorders, in a case-study focusing on a 17-year-old male who was hospitalised due to his condition. This method was able to pinpoint structural variations that were not findable using classic whole genome sequencing.
