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

Google unveils AI that can predict how DNA mutations cause disease - ‘This could add another piece of the puzzle for the ...

Unstable proteins are the main drivers of many different heritable diseases, according to a new study, including genetic disorders responsible for the formation of cataracts, and different types of ...

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 at LUMC have made a breakthrough in understanding PALB2 mutations, an important cause of hereditary breast cancer ...

In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly. The complex, a type of "protein chaperone" known as TRiC, helps ...

Parkinson's disease (PD) is a debilitating and progressive neurodegenerative disorder caused by the loss of dopamine-producing neurons in the substantia nigra, a brain region essential for motor ...

Siblings with autism often have DNA mutations that are very different from each other, which suggests that autism is often genetic happenstance, according to a new study. An analysis of the DNA of 170 ...

The γ-secretase enzyme complex—abandoned as a drug target after candidate molecules proved toxic—is getting another look. New research has correlated the degree to which presenilin mutations affect ...

Orphan Drug Designation applies to approximately 50,000 Patients who predominantly suffer from severe chronic pain due ...

Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...