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 ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...

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 ...

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

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

Scientists have pinpointed precise regions in the human genome where DNA is most likely to develop a mutation. At spots where RNA polymerase 'opens' your DNA to read and copy instructions – known as ...

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 ...

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, ...

Using ancient DNA and clinical genetics, researchers diagnosed a rare growth disorder in two prehistoric relatives buried together in Italy. The findings confirm a mother-daughter relationship, show ...

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

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, ...