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 ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

A patient report submitted to the FDA provides insights on living with ARPKD and unmet medical needs. An “ARPKD Therapeutic Development Roadmap” is forthcoming. Current treatments for autosomal ...

A rare inherited disorder, Xeroderma Pigmentosum (XP) is a photosensitive condition characterized by high susceptibility to skin cancers. XP follows the autosomal recessive pattern of inheritance.

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 ...