A new mouse replica for Joubert Syndrome—a rare brain disease—has been constructed by University of Bath researchers, who expect it would speed up research to understand how the disease advances plus help develop and appraise therapeutic approaches. Scientists were capable of accurately reconstruct the syndrome in mice via targeted deletion of parts of a gene known as Talpid3, which is needed for the configuration of cilia. Cilia are small hair-like projections observed in many mammalian cells. These protrusions task like cellular antenna detecting external signals. The counterpart human gene—KIAA0856—had been connected to the syndrome in past studies.
The discerning gene manipulation in Talpid3 replicated the physical deviations of the syndrome in the cerebellum part (an area of the brain that controls motor skills and balance) of the mice. The mutant mice also revealed one of the important symptoms of Joubert Syndrome that is progressive ataxia, which is a deteriorating lack of motor control. Additionally, the removal in Talpid3 affected on some important molecular pathways linked with the configuration of the cerebellum. The study was published in The Journal of Pathology. Reportedly, Joubert Syndrome is an extraordinary hereditary genetic sickness, affecting almost 1 in 80,000–100,000 people. The syndrome causes the underdevelopment of the cerebellum.
Recently, the University of Bath was in news as its scientists have developed a new technology that can detect Dengue fever in advance. Scientists are developing a new tool for detecting the occurrence of Dengue fever in the early phase, aiding people in preventing and suffering potential serious complications. Dr. Paulo Rocha is developing a low-cost combinative sensing tool for early identification of Dengue virus, by using a new platform containing electrical sensors to examine the behavior of human cells affected with Dengue virus.