Savige Laboratory

Researcher

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 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

  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



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

Medicine and Radiology

Unit / Centre

Savige Laboratory


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