No gene acts alone: interacting variants and protein partnerships can worsen, mask or even rescue disease risk, demanding ...

This photo provided by Emilys Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emilys Entourage via AP) ...

Mutations in the CASK gene, which encodes a multidomain scaffolding protein critical for neuronal development and synaptic organisation, have been increasingly implicated in a broad spectrum of ...

Human semen not only accumulates genetic mutations with age; as the percentage of sperm carrying potentially serious mutations increases, so does the risk of developing diseases in offspring. This is ...

A graph-based computational tool for detecting previously invisible genetic mutations has been developed. Researchers at the University of California, Los Angeles (UCLA; USA) and the University of ...

New York, NY [December 15, 2025] —Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic ...

Researchers are adding new evidence to the emerging concept that 'silent' or synonymous mutations may have crucial consequences. Their study showed how a synonymous mutation in one gene can ...

Investigators have unveiled for the first time that changes in certain genes affect an aggressive cancer, T-cell acute lymphoblastic leukemia (T-ALL), differently depending on genetic ancestry. The ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...