In patients with retinitis pigmentosa (RP), crucial cells in the retina known as rods and cones die over time; night ...

Researchers from Radboud university medical center and University of Basel have discovered new genetic causes of inherited ...

Discovery of genetic glitches in gene formatting (RNU4-2 mutations) discloses a new cause for blindness, solving retinal ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

A large genetic screen has revealed how stem cells transform into brain cells, exposing hundreds of genes that make this ...

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.

Among the most famous demonstrations of genetic mutations driving infection outcome is severe combined immunodeficiency (SCID ...

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 ...