"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

In a breakthrough study, scientists have discovered that a variant in one gene, GRIN2A, can directly cause mental illness – something previously believed to be the result of several mutations working ...

Scientists have identified rare mutations in a single gene that may directly begin causing mental illness as early as childhood, a finding that could change how doctors diagnose and treat psychiatric ...

From cystic fibrosis to sickle cell disease, Down syndrome, and Klinefelter syndrome, these are some examples of genetic illnesses you should be aware of. You should also know that breast cancer, ...

It took a while for the science to basically catch up to that suspicion.” In these types of “recessive” conditions, the ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders Blok–Campeau syndrome caused by mutations in the CHD3 gene. A specialized ...

Add Yahoo as a preferred source to see more of our stories on Google. A new "proteomic" blood test can accurately screen a newborn's DNA for thousands of rare, inherited diseases by analyzing just a ...