Scientists discover innate tumor suppression mechanism

The p53 gene is one of the most important in the human genome: the only role of the p53 protein that this gene encodes is to sense when a tumor is forming and to kill it. While the gene was discovered more than four decades ago, researchers have so far been unsuccessful at determining exactly how it works. Now, in a recent study published in Cancer Discovery, researchers at The Wistar Institute have uncovered a key mechanism as to how p53 suppresses tumors.

SphK2 found to have a crucial role in the pathogenesis of COPD

Chronic obstructive pulmonary disease (COPD) is a chronic respiratory disorder that progresses slowly and is characterized by cough, asthma, dyspnea and shortness of breath. Previous studies have shown that cigarette smoke (CS) is one of the major causes of COPD. Chronic bronchial inflammation induced by CS promotes lung injury, fibrosis and remodeling, finally leading to emphysema, a lung condition that causes shortness of breath. However, the potential mechanism of CS-mediated COPD symptoms remains incompletely understood.

Study finds it’s cost-effective to diagnose intellectual disabilities with whole genome sequencing

Researchers at Karolinska Institutet and Karolinska University Hospital have together with health economists at Linköping University analyzed costs for various methods to diagnose genetic causes of intellectual disability. The study, published in Scientific Reports, shows that the costs when using whole genome sequencing as a first-line diagnostic test were lower compared to chromosomal microarray analysis.