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 ...

Autosomal dominant optic atrophy (ADOA) is the most common dominantly inherited optic neuropathy, triggering the specific loss of retinal ganglion cells (RGCs). ADOA is clinically characterized by ...

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 ...

Please provide your email address to receive an email when new articles are posted on . Black and Hispanic patients spent more years on dialysis and had delayed graft function vs. white patients.

Please provide your email address to receive an email when new articles are posted on . AP303 is intended for the treatment of autosomal dominant polycystic kidney disease. The drug completed its ...

Recent proteomic studies have offered glimpses into the biology of early Alzheimer’s disease. Two new preprints take this approach further, describing high-throughput surveys that turned up numerous ...

Q: When I am in a dark place for a while and then get exposed to sunlight, I sneeze. Am I allergic to sunlight? A: It sounds like you have the Autosomal-dominant Compelling Helio-Ophthalmic Outburst ...

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 ...