A new study has punctured a longstanding assumption about the source of the most common type of DNA mutation seen in the genome--one that contributes to many genetic diseases, including cancer. A ...

A reanalysis of whole-genome data from 130 children conceived after the Chernobyl disaster has identified a statistically significant increase in a specific type of DNA mutation in the offspring of ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...

Characteristics of Clonal Hematopoiesis (CH) Mutations - a) We identified somatic mutations in known clonal hematopoiesis of indeterminate potential (CHIP) driver genes using peripheral blood ...

New rare genetic variants are linked to ALS, expanding understanding of genetic contributors. About a quarter of ALS cases have an identifiable genetic contributor. Findings support broader use of ...

A single gene therapy injection has shown the ability to restore hearing in patients with a specific genetic mutation, with ...

Learn how MTHFR mutations are linked to migraine with aura and why the science on treatments like methylfolate remains mixed.

Carbone called BAP1 a “paradox” because of its seeming ability to both promote and slow cancer, depending on the ...

In a step toward treating mitochondrial diseases, researchers in the Netherlands have successfully edited harmful mutations in mitochondrial DNA using a genetic tool known as a base editor. The ...

Germ cell tumors (GCTs) are a heterogeneous group of neoplasms that predominantly affect adolescents and young adults. Notably, geographical disparities in GCT incidence exist, with higher rates ...