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

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 ...

A new study published in Nature in the paper, “Developmental convergence and divergence in human stem cell models of autism,” provides new insights by demonstrating that while different mutations ...

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 ...

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 ...

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

Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing attention deficit hyperactivity disorder. These findings, published in the ...

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 ...

DNA analysis of a skeleton in Italy uncovers a rare dwarfism case from 12,000 years ago, marking a major milestone in genetic ...

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...

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 ...