Our understanding of mental illness is undergoing a major evolution, driven by recent advances in genetics. Rather than focusing solely on symptoms observed in consultation, research is ...

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 ...

A study reveals that two-thirds of genetic risks for mental health conditions are shared, challenging traditional diagnostic ...

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 ...

New research bolsters the idea that the risk for psychiatric and developmental disorders isn’t specific to particular conditions — and that could mean new opportunities to treat mental illnesses that ...

Despite rapid advances in genetic testing over recent decades, about half of people with a suspected Mendelian genetic disorder have no accurate diagnosis, while others may have to wait years for ...

A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By ...

Many human diseases have a genetic component to them. There are over 6,000 genetic disorders, many of which are fatal or severely debilitating. A genetic disease is caused by a mutation in DNA and can ...

Cystic fibrosis (CF) is a common genetic disorders that has been well studied. Researchers have identified CF-causing mutations in a gene called CFTR, which encodes for an ion channel. The genetic ...