Shahad Laeith Bensaoud

• BSc (Hons) Biomedical Sciences
• Investigation of cystic kidney disease genes using whole exome sequencing and analysis

Nephronophthisis (NPHP) is a genetic cystic kidney disease caused by a number of different mutations. The aim was to try discovering novel genes involved in this disease and associated ciliopathies, which will lead to an easier genetic diagnosis for future patients and broadens the current understanding of the disease. Samples from affected families went through Whole Exome Sequencing (WES) then were analysed using in-silico techniques and then Sanger sequencing confirmed mutations. The aim was achieved by determining a mutation that caused the disease in one family and a number of mutations were proven harmless.

Project Supervisor: Dr John Andrew Sayer, Institute of Genetic Medicine

Funding source: Newcastle University