Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

Forty years ago, a postdoctoral researcher named James McGrath who would go on to spend more than three decades as a clinical geneticist and research scientist at Yale, made a discovery that advanced ...

Genetic testing can confirm a muscular dystrophy (MD) diagnosis when symptoms and other tests already suggest MD. It also identifies specific gene mutations that can guide targeted treatment. Genetic ...

The first gene mapping study on human scalp hair whorls not only shows that hair whorl direction has a genetic basis, but also that it is affected by multiple genes. Four associated genetic variants ...