Optogenetics has long been a powerful experimental tool, but a growing body of research suggests it may now be approaching a ...

A new study has brought scientists one step further in the direction of developing a cure for a brutal group of rare brain disorders known as SYNGAP1-related disorders, or SRDs. Researchers were able ...

This infographic shows a concise overview of the present study, which investigated the key underlying mechanism called RAN translation that has implications in the pathology of multiple ...

FOP is a disease in which muscles, tendons and ligaments are progressively replaced by bone, leading to eventual incapacitation Garetosmab is the first and only treatment to demonstrate a dramatic ...

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the ...

Factor V Leiden thrombophilia is a genetic disorder that increases the risk of abnormal blood clot formation. Factor V Leiden thrombophilia is a genetic condition that increases the risk of developing ...

Arteriovenous malformations, a hallmark of hereditary hemorrhagic telangiectasia, may be driven by endothelial cell-cycle acceleration via CDK6, suggesting potential for repurposing CDK6 inhibitors.

Testing is essential when confirming a hemophilia diagnosis. The process includes a physical exam and blood-clotting factor ...