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, ...

Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial ...

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

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

Researchers have discovered that eight different psychiatric conditions share a common genetic basis. A study published in early 2025 pinpointed specific variants among those shared genes, showing how ...

Despite widespread misconceptions, eating disorders aren’t a choice, they’re serious, potentially life-threatening conditions. While social and environmental factors do influence someone’s risk of ...

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