Genetics Team
The Centre for Kidney Research Genetics Team offer novel forms of genetic kidney disease testing to families who have not been able to find an answer through routine clinical testing. They are a network of nephrologists, geneticists, genetic counsellors and scientists.
Objectives
Our research is focused on genomic sequencing and functional genomic techniques for improving the diagnostic rate and therapeutic opportunities for those with inherited kidney diseases. We do this by:
- Investigating disease-causing genes through unique disease modelling methods to help build our understanding of disease processes and potential therapies.
- Implementing genetic testing technologies to different clinical scenarios to improve diagnosis in the clinic.
Impact
- We have developed a method to grow miniature kidneys, or organoids, from patient biopsies. This allows us to investigate the underlying disease mechanisms and identify candidate genetic variants that cause inherited kidney disease.
Collaborators
title
Dr Hugh McCarthy
Email
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Biography
Nephrologist/Clinical Academic. Dr McCarthy is a paediatric nephrologist and clinical researcher within the University of Sydney. He established and ran the NSW paediatric renal genetic clinical service. His research focuses on the care of children living with rare and genetic renal disease and the study of the pathogenesis of nephrotic syndrome.
Related Links
More team members
- Fatima Riaz – Associate Genetic Counsellor