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 ...

The tiny zebrafish is helping researchers rapidly determine whether a newborn's genetic mutation is likely to cause spinal ...

(SALT LAKE CITY)--A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery ...

Medically reviewed by Brigid Dwyer, MD Key Takeaways Huntington’s disease is a genetic condition that is inherited in an autosomal dominant pattern.The genetic change that causes Huntington’s disease ...

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist ...

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