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 ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

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 ...

In a genetic association study, investigators integrated data from genome-wide association studies of various disorders with retinal transcriptomic data. Findings revealed that the polygenic risk of ...

The study used large-scale CRISPR gene-editing technology to systematically determine which genes are required as embryonic ...

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 rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders ...

The spectrum of information that can be obtained by prenatal testing is wide and rapidly increasing. Many mutations, or "abnormalities," are inconsequential, while others are significant. Genetic ...

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