Savige Laboratory

Research Overview

Our group focuses on the genetics of kidney disease – how common genetic kidney disease is, how often it is unrecognised, and whether mutation characteristics can be used to predict the corresponding clinical severity. We are especially interested in the ocular manifestations since these can often be detected with inexpensive and non-invasive tests such as retinal photography

In addition, we curate the international mutation databases for Alport syndrome, the commonest genetic kidney disease and the second commonest cause of inherited kidney failure.

We have extended this work to some other common genetic diseases too.

We are a member of the Australian Genomics network.

Our work is currently a combination of bioinformatics and clinical work including retinal photography.


  • Prof Judy Savige
  • A/Prof Deb Colville, ophthalmologist
  • A/Prof Heather Mack, ophthalmologist
  • Dr Philip Harraka
  • Students:
    • Mary Huang (PhD student)
    • David Wang (MDRP student)
    • M Bioinformatics (Research projects)
    • Yuxin Li
    • Jing Zhang
    • Ziming Zhou
    • Zhuojun Yin
    • Bocheng Huang
    • Alex Kim
    • Chuyun Zhang
    • Yichun Hu
    • Baikuang Chen


  • A/Prof Khalid Mahmood, Melbourne Bioinformatics
  • A/Prof Peter Crouch, Department of Biochemistry and Pharmacology
  • Prof Danny Gale, UCL
  • ClinGen and Genomics England
  • Drs David Barit, Tim Pianta, David Langsford all from Northern Health Renal Unit


Australian Alport Foundation (2022) $20,000

Research Outcomes

  1. Savige et al. Expert guidelines for the management of Alport syndrome and TBMN. JASN 2013; 24: 364-75.
  2. Storey et al. Clinical and molecular features in unrelated individuals with autosomal recessive Alport syndrome. JASN 2013; 24: 1945-54.
  3. Savige et al. Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant and freely available? Hum Mutation 2014; 35: 791-3.
  4. Miner JH et al. Kidney Int 2014; 86: 679-84.
  5. Savige J. Alport sydnrome: its effects on the glomerular filtration barrier and implications for furtuer treatment. J Physiol 2014; 86: 679-84.
  6. Savige et al. Ocular features in Alport syndrome: pathogenesis and clinical significance. C JASN 2015; 10: 703-9.
  7. Ooi et al. Microvascular disease after renal transplantation. Kidney BP research 2015; epub
  8. Rangan and Savige. Autosomal dominant polycystic kidney disease: a path forward. Sem in Nephrology 2015.
  9. Savige: New cases of Thin basement membrane nephropathy. NDT (in press).
  10. Savige et al. Alport sydnrome in women and girls. Clin  JASN (in press)
  11. Savige  et al. Retinal disease in the C3 glomerulopatheis and the risk of impaired vision. Ophthalmic Genetics (in press).
  12. Savige et al. Bull's eye and pigment maculopathy . Ophthalmic Genetics (in press).

Research Publications

These are our top publications from the past 5 years from a total of 56. All of this work was undertaken by students – Honours, medical students, and Master’s and PhD students. Most of our students obtain a publication during their studies with us.

  1. Prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for Alport syndrome. Gibson J, Fieldhouse R, Chan MMY, Sadheghi-Alavijeh O… Savige J. J Am Soc Nephrol 2021;32:2273-2290.
  2. Savige J et al. Digenic Alport syndrome. Clin J Am Soc Nephrol 2022: PMID:35675912
  3. Nicklason E, Ham Y… Savige J. Retinal drusen counts are increased in inflammatory bowel disease, and with longer disease duration, more complications and associated IgA glomerulonephritis. Scientific reports
  4. Gibson J, de Gooyer M, Huang M, Savige J. Proteinuria and pathogenic variants in women and girls with X-linked Alport syndrome (KI Reports, in press).
  5. Harraka P, … Savige J. Retinal drusen counts are increased in IgA glomerulonephritis: further evidence for complement activation in disease pathogenesis. Scientific reports (in press)

Research Projects

Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine

Key Contact

For further information about this research, please contact Group Leader Professor Judy Savige

Department / Centre


Unit / Centre

Savige Laboratory

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