Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive neurological disease with an average age of onset at 43 years and an average life expectancy of only ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

Certain rare gene mutations can contribute significantly to low levels of a beneficial form of cholesterol in the blood, researchers have found. Low levels of this cholesterol, known as high-density ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...

A genetic mutation found in two human patients with schizophrenia also increased schizophrenia-related behaviors in mice with the same mutation, a rare finding of a direct genetic link to psychosis, ...

A rare breed of hunting dogs known for its forked nose, the Turkish Pointer, might just help scientists better understand why human babies are sometimes born with facial clefts. In a recent study, ...

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 Northern Kentucky family is in a desperate search for answers as their 10-year-old boy battles a rare brain disorder.

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 ...