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

Is Obesity Genetic or Environmental? Get All the Details This article was reviewed by Lynn Marie Morski, MD, JD. Key ...

Euan Ashley's lab explores the intricate interactions of gene variants. Tiny "typos," or genetic mutations, can sneak into ...

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) ...

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 ...

Experimental gene therapies like AMT‑130 lower toxic huntingtin protein and significantly slow Huntington’s disease, offering ...

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 ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...