Natalie Maria Jones

• BSc Biomedical Sciences
• Identifying molecular pathways associated with initiation and progression of nephronopthisis

Joubert Syndrome (JBTS) is an inherited disorder presenting with retinal degeneration, abnormal cerebellar development and nephronophthisis. The laboratory of Miles/Sayer at Newcastle University has created a novel JBTS mouse model, in which the Cep290 gene is mutated. Cep290 mutant mice have a progressive cystic kidney disease that begins shortly after birth, display a failure to concentrate urine, and have well developed cysts by one month of age. The aim of this project is to identify which gene expression changes are responsible for the onset of cystic kidney disease. These molecular pathways leading to nephronophthisis may suggest targets for therapeutic intervention.

 Funding source: Newcastle University