Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This 'treatable fetal findings list' could improve the diagnosis of genetic ...

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

Prenatal genetic testing has existed since the 1970s. In the 1990s, non-invasive testing became available, and significant scientific gains were made. Now, doctors can screen for hundreds of genetic ...

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 ...

DANVILLE, Pa. – A “genomic-first” approach to screening for rare genetic disorders —identifying specific genetic variants and then studying associated traits and symptoms — can identify these ...

Although mental disorders have multifactorial causes, genetics can explain some of them, yet this field remains largely unexplored in terms of guiding diagnoses and treatments. In the largest study of ...

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 ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

Rare diseases are hard to diagnose and often require costly genetic testing and visits to specialists. The testing can be hard to access, especially for people who live in rural areas. Researchers at ...