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 ...

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 ...

Panel A shows the clinical characteristics and treatments for all six unrelated patients with autosomal dominant hypocalcemia type 1 (ADH1) who received continuous subcutaneous parathyroid hormone ...

Cockayne syndrome is a rare genetic disorder caused by changes in the ERCC8 or ERCC6 genes. People with the disorder have many health issues, such as premature aging, that shorten a person’s life ...

Critical Path Institute (C-Path) is thrilled to announce its Polycystic Kidney Disease Outcomes Consortium (PKDOC) has been awarded an Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) ...