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

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

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 ...

Many patients suffering from IGHM defects showed gross deletions ranging in size from 40 to 732 Kb which encompassed the IGHM gene. The high incidence of these large deletions may be explained by the ...

Medically reviewed by Brigid Dwyer, MD Key Takeaways Huntington’s disease is a genetic condition that is inherited in an autosomal dominant pattern.The genetic change that causes Huntington’s disease ...

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 ...

Please provide your email address to receive an email when new articles are posted on . A recently published study shows a history of hypertension and smoking increases the risk of the formation of ...

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 ...

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 ...

"Groups such as the American College of Medical Genetics and Genomics can use this study to help determine whether PKD1 and PKD2 should be considered in future recommendations for reporting of ...

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 ...

Tiong Tan does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their ...