Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

When cysts develop on your kidneys, it’s called autosomal dominant polycystic kidney disease (ADPKD). This progressive disease can be fatal, but the right treatments can help slow the formation of new ...

Hereditary angioedema is a potentially life-threatening autosomal dominant condition, causing attacks of angioedema due to failure to regulate bradykinin. Nearly all cases of hereditary angioedema are ...

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic condition that can lead to kidney failure and that has no cure. Recent research published in JASN uncovers an over-looked ...

Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...

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 ...

U.S.-based researchers examined the burden of imaging in a population of patients with ADPKD, versus that of patients with chronic kidney disease (CKD). People with ADPKD underwent more abdominal ...

Panelists discuss how exciting ongoing research efforts are expanding similar gene therapy technologies to other muscular dystrophies like FSHD and myotonic dystrophy, using strategies to knock down ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...