Genetic Testing for Joubert Syndrome in the Jewish Population

Tech ID: 19946 / UC Case 2009-359-0

Full Description

The "ciliopathies" are a newly emerging group of diseases due to defects in the function or structure of cellular primary cilia, which are small cellular appendages previously of unknown function. UC San Diego researchers and colleagues have identified five genes for Joubert Syndrome (JS), which is a ciliopathy that is characterized by cerebellar ataxia, blindness, renal failure, and mental retardation. Most of these mutations occur randomly throughout the gene, which makes genetic diagnosis very laborious.

Researchers found that all Jewish patients with JS share a common mutation in a newly identified gene. Of the Jewish families tested thus far, 100 percent of the patients were homozygous for the point mutation. It is anticipated that this discovery will make it possible to perform genetic testing in this population easily.

Patent Status

Country Type Number Dated Case
United States Of America Issued Patent 9,879,322 01/30/2018 2009-359
United States Of America Issued Patent 8,614,094 12/24/2013 2009-359
United States Of America Published Application 20180195126 07/12/2018 2009-359
 

Contact

Learn About UC TechAlerts - Save Searches and receive new technology matches

Other Information

Categorized As