New framework to identify genetic risk of disease could lead to targeted therapeutics

Genome-wide association studies (GWAS) on patient blood samples are useful for identifying the genetic basis of blood cell traits and their links to common diseases. While previous experiments have focused on characterizing clinical parameters such as cell count, few have evaluated the dynamic effects of factors—such as inflammation, microbiome or medications—on blood cell contributions to disease development and progression.

Developing deep learning models to understand the human genome

Northwestern Medicine scientists have developed a deep learning algorithm capable of identifying the location where a genetic process called polyadenylation occurs on the genome, according to findings published in Nature Communications. Investigators say the development has the potential to accelerate research around diseases and disorders that occur when the process of DNA transcription goes awry.

Scientists find a ‘scarcode’ common across damaged organs

Scarring goes more than skin deep. It can occur in any organ because of injury from smoking and excessive alcohol consumption or as a byproduct of chronic conditions like endometriosis, cardiovascular disease and autoimmune disorders. While scar formation is essential in wound healing, when the scarring—or fibrosis—spins out of control, it can lead to deadly consequences, contributing to almost 2 out of 10 deaths worldwide every year.