Savige Laboratory

  • Group Leader

    Professor Judy Savige
    T: +61 3 8344 3260
    E: jasavige@unimelb.edu.au
    Location: 4th floor Clinical sciences Building, RMH

Research Overview

We work on inherited renal disease.

We look for new genes in families with interesting but undiagnosed real diseases.  

We curate a database for the second commonest cause of inherited renal  failure (Alport syndrome).

We study cell lines made from patients with inherited renal disease to understand how the underlying mutations cause disease.

We test out new treatements in these cell lines to try to modify the effect of mutations.
We use gene editing in these cell lines an dalso make stem cells with our collaborators to determine whether this form of treatement works.

In addition we look at ocular features in inherited renal disease, and what they tell us about disease pathogenesis. We also use the retinal photographs to test for uncontrolled hypertension.

Staff

  • Prof Judy Savige
  • Dr Dongmao Wang
  • A/Prof Deb Colville
  • Dr Yanyan Wang
  • Sarah Hayes
  • Yan Chen
  • Charmian Chan

Collaborators

  • A/Prof Andrew Lonie, VLSCI together with Dr Gayle Philip and Dr Mike Kuiper  
  • A/Prof Andrew Symons, Department of Ophthalmology  
  • A/Prof B Vangaal, Northern Health  
  • Prof Steve Holt, RMH

Research Opportunities

This research project is available to PhD students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.

Research Publications

  1. Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY. Thin basement membrane nephropathy (TBMN). Kidney Int 2003;64:1169-78.  77.Buzza M, Wilson D, Savige JA. Segregation of hematuria in Thin basement membrane disease with haplotypes at the loci for Alport syndrome. Kidney Int. 2001 May;59(5):1670-6.
  2. Savige J, Buzza M, Dagher H. Haematuria in asymptomatic individuals - Often caused by inherited thinning of the glomerular membrane. Brit Med J (Editorial) 2001:322:942-943.
  3. Savige JA, Gillis D, Davies D, Esnault V, Falk R, Hagen C, Jayne D, Jennette C, Paspaliaris B, Pollock W, Pusey CD, Savage COS, Silvestrini R, van der Woude F, Wieslander J, Wiik A. International consensus statement on testing and reporting of antineutrophil cytoplasmic antibodies (ANCA). Am J Clin Pathol 1999;111:507-513.
  4. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J,                        Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001 Nov;69:1033-45.
  5. Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, Dowling J, Savige J. COL4A4 mutation in Thin basement membrane disease previously described in Alport syndrome. Kidney Int 2001 Aug;60(2):480- 3.
  6. Buzza M, Wilson D, Savige JA. Segregation of hematuria in Thin basement membrane disease with haplotypes at the loci for Alport syndrome. Kidney Int. 2001 May;59(5):1670-6.
  7. Savige J, Buzza M, Dagher H. Haematuria in asymptomatic individuals - Often caused by inherited thinning of the glomerular membrane. Brit Med J (Editorial) 2001:322:942-943.

Research Projects

Currently no project details available



Faculty Research Themes

Child Health

School Research Themes

Child Health



Key Contact

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

Department / Centre

Medicine and Radiology

Unit / Centre

Royal Melbourne Hospital