Dystroglycanopathies are a subset of rare congenital muscular dystrophies (CMDs) caused by dysregulation in the assemblage of glycans on the α-dystroglycan (α-DG) transmembrane glycoprotein.

Recent findings have unveiled some integrins are associated with Mendelian conditions. In a recent study, researchers directed efforts toward studying integrin-beta 8 (ITGB8) and its association with pathology, especially with neurological pathology, as none of them have been linked to neuropathology to date.

Researchers from Bridgebio Pharma Inc. presented preclinical characterization of the novel next-generation KRAS G12C GTP/GDP dual inhibitor candidate, BBO-8520, being developed for the treatment of cancer.

Researchers from Bayer AG presented the discovery of BAY-2927088, a new noncovalent tyrosine kinase inhibitor targeting EGFR exon 20 insertions and C797S resistance mutations in non-small-cell lung cancer (NSCLC).

The simultaneous mapping of DNA mutations and epigenetic changes as colorectal cancer evolves has for the first time tracked their relative contributions and shown epigenetic control of gene transcription is far more important than somatic mutations in enabling tumors to adapt and develop a survival advantage over other cells. In an analysis of 1,373 samples from 30 colorectal cancer samples, epigenetic changes were highly common in cells that had become cancerous and occurred around known cancer driver mutations. These epigenetic alterations were heritable, were passed on at each cell division, and in addition to a direct contribution to the evolution of tumors also influenced how cancer cells accumulated DNA mutations. The modifications to gene regulation conferred survival advantages that meant cancer cells grew faster than normal counterparts. While it is not news that epigenetic changes are involved in tumor development, previously it was not clear what the relative contribution was, and that their effect could be independent of DNA mutations.

Circuit dysfunction is clearly recognized as a driver of neuropsychiatric disease, and some neurodegenerative diseases such as Parkinson’s disease. And at the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) 2022 Congress, researchers made an argument that the same is true in multiple sclerosis (MS). Such a lens could explain the radiological-clinical paradox between the amount of structural damage and clinical severity.

Investigators working at the Jiangxi Science & Technology Normal University, China, have reported the development of novel ruthenium polypyridine antibiotics with demonstrably promising in vitro and in vivo activity against Staphylococcus aureus.