Genetic Mutation

The customized solution enables the team to make informed variant interpretations and treatment recommendations

Inherited retinal diseases cause vision loss and blindness. New gene therapy trials have improved sight for some

Large-scale functional studies are emerging that offer promise to improve variant interpretation

A new, ultra-fast genetic test developed by NYU Langone Health may enable surgeons to identify cancer cells in real-time during brain surgery, improving tumor removal accuracy

By linking epilepsy to specific genetic mutations, the research offers a new framework for understanding the disorder and developing therapies that address its root causes

Study is the first to identify discrete genetic mutations associated with smoking, to establish a dose-response relationship between smoking and genetic mutations and to show that continuing to smoke leads to more mutations and worse MDS

The study helps explain why BRCA1 is such an important tumor suppressor in breast and ovarian cancers 

A recent study reveals how PAI-1 gene polymorphisms are linked to severe COVID-19 outcomes

A new study finds that inherited neurological conditions may be three times more common than previously thought, reshaping genetic testing and diagnostic practices

While manual reanalysis takes weeks, the new technology took from 10 seconds to 1.5 hours to reanalyze each unresolved case