A life-threatening kidney disease may be one day be a treatable condition thanks to work by researchers at Newcastle University, and patients with the illness - Joubert syndrome. For the first time, ...

Researchers in Ireland have gained new understanding of the role played by the cilial protein Arl13b in Joubert syndrome (JS), a rare disorder characterized by developmental delay, mental retardation, ...

Physicians may be a step closer to pre-natal diagnosis of a rare genetic disorder called Joubert syndrome. This condition, present before birth, affects an area of the brain controlling balance and ...

A new mouse model for Joubert Syndrome has been developed by University of Bath scientists, who hope it will accelerate research to understand how the disease develops as well as help develop and ...

An important link has been found between the intellectual disability seen in children with Joubert Syndrome and defects in a specific part of the brain. An important link has been found between the ...

GRAND RAPIDS, MI -- Darting from side to side, Connor Houghton's rapid eye movement was his parents' first indicator their baby may have developmental challenges ahead. Connor, now 20 months, has been ...

Researchers at the University of California, San Diego (UCSD) School of Medicine have discovered the gene for a form of Joubert Syndrome, a condition present before birth that affects an area of the ...

Four-year-old Oliver McDonald can be sensitive to loud sounds and has trouble getting around. His parents got him a Power Wheels car for him to use this summer, but his little sister likes it better, ...

An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus. The hippocampus is the part of ...

Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period. This ...