2016 Participants
Jessica Downing
Joubert syndrome (JS) is a rare childhood condition leading to kidney failure, blindness and brain malformation. Mutations in the Cep290 gene are the most common cause of the disease but there are many genes yet to be discovered. It is not known how mutations cause disease and current treatments merely alleviate symptoms. Understanding JS is further complicated by the fact that individual patients, even siblings, can show very different symptoms. This project studied a mouse model of JS (mutated Cep290 gene) to understand the genetic complexity of the disease. By interbreeding mouse strains(black and beige mice), disease symptoms range from mild to severe depending on the black/beige genes inherited, i.e., a model of natural human genetic differences. The results have validated the datasets by identifying coat colour genes and have revealed that multiple genetic variables influence disease severity but that these will be identifiable with statistical analyses.
Funding source: Newcastle University
Supervisor: Dr Colin Miles