Joubert Syndrome Press Releases

What goes wrong in developmental brain disorders? Recent genetic studies have suggested a surprising culprit in some of these disorders: abnormalities in hairlike structures called cilia on the surfaces of cells. A new study shows that proteins associated with cilia are essential for normal development of the brain’s cerebellum. The finding helps to explain a diverse and puzzling group of developmental disorders.

What goes wrong in developmental brain disorders? Recent genetic studies have suggested a surprising culprit in some of these disorders: abnormalities in hairlike structures called cilia on the surfaces of cells. A new study shows that proteins associated with cilia are essential for normal development of the brain’s cerebellum. The finding helps to explain a diverse and puzzling group of developmental disorders.

Researchers have identified the genes for two different forms of Joubert syndrome, a rare developmental disorder that causes coordination and movement problems and mental retardation in children. The findings allow genetic testing for some forms of the disorder and provide valuable insights about how the human brain develops.

Researchers have identified the genes for two different forms of Joubert syndrome, a rare developmental disorder that causes coordination and movement problems and mental retardation in children. The findings allow genetic testing for some forms of the disorder and provide valuable insights about how the human brain develops.