Nephrology
Finding genetic mutations in new types of inherited kidney disease - ONLY offered as MBiomedSc
Supervisors: Professor Judy Savige and Dr Yanyan Wang
Project Site: Department of Medicine RMH.
Contact: Professor Judy Savige, T 8344 3260, j.savige@unimelb.edu.au
Project description: To date, more than 120 different inherited kidney diseases due to mutations in 160 different genes have been identified. However there are still many diseases where the genes are not known. We have an Inherited renal disease clinic and are referred many families with unclassified kidney diseases. We have a number where the mutant genes are not known, and in the first instance are looking at some candidate genes. The aim of this project is to help characterize the patients (many have hearing loss and eye abnormalities too) and determine the mutant gene that is responsible for the disease in each family. For example, we have 12 families with inherited focal segmental glomerulosclerosis (FSGS), and also some candidate genes. Patients with focal segmental glomerulosclerosis have protoeinuria and invariably develop renal failure, requiring life long dialysis or a renal transplant. The aim of this project is to determine which genes are affected in FSGS and some other inherited renal diseases.
Techniques to be used and skills acquired: This study involves extracting DNA from peripheral blood, designing amplification/PCR primers, amplifying DNA, purifying it, sequencing it, and determining if the DNA change is pathogenic. This work is likely to result in a publication and could easily lead on to a PhD. This project involves working with a kidney specialist (Prof Judy Savige in her clinic) and with A/Prof Deb Colville an ophthalmologist.
Feasibility: We already have DNA stored from 12 families with FSGS and have Human Research Ethics Committee Approval for this project. This project has plenty of patient contact and also good laboratory experience.