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 ...

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 ...

A sweeping new study of psychiatric and genetic records has the potential to change treatment for millions of psychiatric patients.

Scientists have pinpointed nearly 300 "hotspots" in the human genome that may increase the risk of bipolar disorder. In the largest study of its kind to date, an international research team conducted ...

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 ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

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

Gretchen Noah waited 2½ years for doctors to make the diagnosis she knew in her heart for months. Her son, Markie, now 3, has Smith-Lemli-Opitz Syndrome, a genetic disorder caused by insufficient ...

Experts say the research could reveal more about the role of genetics in autism and lead to more personalized care. A new study has identified four biologically distinct subtypes of autism, each with ...

Using multiple cutting-edge genomic methods, the researchers examined how genetic variation is distributed across disorders, cell types, and biological pathways. Five core genetic dimensions of mental ...