An experimental gene therapy restored at least some level hearing in most patients with a rare form of inherited deafness, a study found. The study, published April 22 in Nature, evaluated 42 children ...

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 ...

We next examined the evolutionary conservation and phenotypic effect of Ser280Phe and Ser284Leu, which have shown recurrent occurrence in CHRNA4. The evolutionary conservation was estimated using ...

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 ...

Please provide your email address to receive an email when new articles are posted on . From an enrollment of more than 5 million, crude prevalence of autosomal dominant polycystic kidney disease was ...

Diseases or health problems are not only transferred through infections and inflammation, but also through your genes. There are some disorders that you already have it in your genes and you get it ...

Polycystic kidney diseases are a leading cause of end-stage renal failure and a common indication for dialysis or renal transplantation. Recent advances have led to insights into mechanisms underlying ...

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 ...

"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 ...