The oral modulator of the calcium-sensing receptor targets the causes of ADH1, significantly improving serum and urine calcium levels.

Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have ...

Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent hereditary disorder characterized by the development and growth of fluid-filled cysts, resulting in a decline in kidney function.

Mayo Clinic's Vascular Biology and Biomarker Discovery in Polycystic Kidney Disease Lab leads studies to identify early ...

Autosomal dominant optic atrophy (ADOA), the most common genetic optic neuropathy, is an insidious disease. It often presents slowly during childhood by way of blurry vision, trouble reading or ...

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 ...

Researchers at Johns Hopkins University and Texas A&M University have documented at least 522 autosomal sites where DNA methylation patterns pass from parent to offspring without following Mendel’s ...

Most people with ALS don’t have a family history of it. Still, some cases of ALS are linked to inheriting specific gene mutations. Even nonfamilial cases can be linked to sporadic gene mutations that ...