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 ...

Autosomal recessive spastic ataxia encompasses a spectrum of early-onset neurodegenerative disorders most notably exemplified by ARSACS, in which biallelic mutations in the SACS gene lead to loss or ...

Most people with ALS don’t have a family history of it. Still, some cases of ALS are linked to inheriting specific gene mutations. Even nonfamilial cases can be linked to sporadic gene mutations that ...

Not all broken genes fail in the same way: some simply stop working, while others interfere with what still works.

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 ...

A new review has illuminated a critical but often overlooked dimension of autosomal dominant polycystic kidney disease (ADPKD ...

Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive ...