Researchers identified rare genetic mutations that may account for undiagnosed neurodevelopmental disorders, linking the FLVCR1 gene with various neurological symptoms. A collaborative study, led by ...
In this groundbreaking study, researchers uncover how ultra-rare genetic variants, especially in heart cells, play a critical role in raising the risk of coronary artery disease among individuals ...
to correct disease-causing mutations in stem cells from patients with X-linked chronic granulomatous disease (X-CGD), a rare genetic disorder characterized by high susceptibility to infections.