A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

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, ...

Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how disruptions in arginine and nitric oxide signaling damage sensory cells in the ear.

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...

Panelists discuss how EGFR mutation profiling guides targeted first-line NSCLC therapy and shifts care toward precision medicine. Panelists discuss how understanding EGFR mutations has transformed the ...

During development of the digestive system, a complex network of nerves forms around it, creating a "second brain"—the enteric nervous system (ENS)—which controls the movement of food and waste ...