Boffins Identify Fifth Gene Behind Joubert Syndrome

An international team of researchers has identified a new genetic cause for Joubert syndrome (JS), an inherited condition that affects development of the cerebellum and brainstem-the structures in the brain that coordinate movements and regulate basic functions such as breathing, swallowing, heart...

In retinal disease, sight may depend on second sites

...ter in life or not at all? For a group of genetic diseases so-called ciliary diseases that include Bardet-Biedl syndrome, Meckel-Gruber syndrome, and joubert syndrome the answer lies in one gene that is already linked to two of these diseases and also seems to increase the risk of progressive blindness in ...

Genetic Cause of Inherited Eye Diseases Identified

...kidney disease, obesity, polydactyly, diabetes, and retinal degeneration; Senior-Loken Syndrome, which causes kidney disease and retinal degeneration; joubert Syndrome, which causes neurological disease, kidney disease, and retinal degeneration; Usher Syndrome, which causes deafness and blindness; and Meckel...

Joubert in Biological News

Cats' eye diseases genetically linked to diseases in humans

...esearchers found that cats with the late-onset form of the disease have a mutation in the CEP290 gene, which is the same mutation found in humans with joubert syndrome and Leber's congenital amaurosis. In both of these diseases, the genetic mutations result in changes in the function and structure of the pho...