Genetic Mutation

In preclinical models, the CRISPR-Cas9 gene therapy precisely repaired the genetic error that causes a rare vascular disease

New understanding of how mutations interact could pave way for early detection, prevention strategies

Genetic factors contribute to some 30 percent of breast cancer cases in South Africa, necessitating investment in genomic research in African contexts

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