Learn About Joubert Syndrome

What is the definition of Joubert Syndrome?

Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

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What are the causes of Joubert Syndrome?

Joubert syndrome can be caused by mutations in more than 30 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called primary cilia. Primary cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in sensing the physical environment and in chemical signaling. Primary cilia are important for the structure and function of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. Primary cilia are also necessary for the perception of sensory input, which is interpreted by the brain for sight, hearing, and smell.

How prevalent is Joubert Syndrome?

Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. However, this estimate may be too low because Joubert syndrome has such a large range of possible features and is likely underdiagnosed. Particular genetic mutations that cause this condition are more common in certain ethnic groups, such as Ashkenazi Jewish, French-Canadian, and Hutterite populations.

Is Joubert Syndrome an inherited disorder?

Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition.

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What are the latest Joubert Syndrome Clinical Trials?
Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis

Summary: The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure. The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliop...

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Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))

Summary: In 2005, The University of Alabama at Birmingham established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. In the previous Core Center award period, we developed a Core Resource to capture clinical and mutational data for ARPKD patients (Core A: ARPKD Clinical and Genetic Resource, NCT00575705). However, studies in the last...

Who are the sources who wrote this article ?

Published Date: July 01, 2017Published By: National Institutes of Health

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