Using cortical organoids from individuals with autism, researchers tracked gene activity over development. Early ...

A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors with almost no way to intervene. Researchers have now traced that ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

Some lucky people have rare genetic mutations that enable them to feel well-rested after just four hours of sleep, while the rest of us need around eight hours to function. Now, researchers have ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights ...

Hackathons using AlphaGenome and other AI models are hunting down the genetic causes of devastating conditions that have ...

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

Emily Kramer-Golinkoff can't get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

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 ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...