Joubert Syndrome News and Research

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Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Scientists discover new links between inherited blindness and AHI1 gene

Scientists discover new links between inherited blindness and AHI1 gene

Scientists discover link between mutations in INPP5E gene and ciliopathies

Scientists discover link between mutations in INPP5E gene and ciliopathies

In retinal disease, sight may depend on second sites

In retinal disease, sight may depend on second sites

Genetic link between cats and humans for retinitis pigmentosa

Genetic link between cats and humans for retinitis pigmentosa

Cilia research may help find cure for inherited eye diseases

Cilia research may help find cure for inherited eye diseases

New genetic cause for Joubert syndrome

New genetic cause for Joubert syndrome

Researchers link novel mutated gene to mental retardation and imbalance syndrome

Researchers link novel mutated gene to mental retardation and imbalance syndrome

Mutated gene leads to JSRD

Mutated gene leads to JSRD

Significant step forward in the genome era

Significant step forward in the genome era

Discovery of the gene for a form of Joubert Syndrome

Discovery of the gene for a form of Joubert Syndrome