Western Australian Institute for Medical Research (WAIMR)


http://www.waimr.uwa.edu.au

Professor David Ravine

David Ravine

Phone: +61 8 9224 0349
Fax: +61 8 9224 0322
Email: ravine@waimr.uwa.edu.au

David Ravine is Professor of Medical Genetics at the University of Western Australia, having returned to Australia from the UK where he was director of the Genetic Diagnostic Laboratory within the Medical Genetics Service for Wales. After graduating from the medical school at UWA, David moved to The Royal Children's Hospital and Murdoch Children's Research Institute in Melbourne for postgraduate training in clinical genetics and research (supported by an NHMRC Postgraduate Medical Scholarship). He then transferred to the UK to gain additional clinical and research experience at the Institute of Medical Genetics Service within the University of Wales College of Medicine. Significant earlier research achievements included defining the natural history and phenotype-genotype correlations of autosomal dominant polycystic kidney disease (in both Melbourne and the UK), and an active contribution to the multicentre collaborative effort that found mutations in a major gene responsible for tuberous sclerosis.

Located within the Western Australian Institute of Medical Research laboratories at Royal Perth Hospital, Professor Ravine has clinical appointments within PathWest and Royal Perth Hospital. He also has strong links with Princess Margaret Hospital for Children and has an appointment as an honorary research fellow within the Telethon Institute for Child Health Research. He is focused on responding to opportunities available for clinically-directed research and development, particularly at the interface between clinical practice and laboratory genetic medicine. He is aiding the process of upgrading the under-graduate teaching of medical genetics within UWA. He is also involved in the post-graduate training of physicians and pathologists, both locally in Perth and nationally by his involvement with the postgraduate assessment activities of the Royal Australasian College of Physicians and the Royal College of Pathologists of Australasia.

His research interest in Perth is focused on Rett syndrome, which is a serious neurodevelopmental disorder affecting mostly girls. Working collaboratively with Dr Leonard in Perth and Professor Christodoulou in Sydney, and with support from the Rett Syndrome Association of Australia, he has positioned his developing laboratory-based research programme to complement the existing programmes in both Sydney and Perth. In association with Dr Alka Saxena, who is a Peter Doherty NHMRC post-doctoral fellow, his group has expanded their research studies into the intracellular, particularly neuronal, disturbances associated with MeCP2 expression abnormalities. Professor Ravine and Dr Saxena are currently follow-up up on novel observations they have made of biological disturbances arising from MeCP2 expression defects, which have introduced the possibility of a drug-based therapy for Rett syndrome, autism and several other severe neurodevelopmental disorders associated with MeCP2 dysfunction.

Research Interests

  • Rett syndrome
  • Autism
  • Inherited kidney diseases

Major Publications

  1. Gout AM, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, Torra R, Turco AE, Jeffery S, Fontes M, Somlo S, Furu LM, Smulders YM, Mercier B, Ferec C, Burtey S, Pei Y, Kalaydjieva L, Bogdanova N, McCluskey M, Geon LJ, Wouters CH, Reiterova J, Stekrova J, San Millan JL, Aguiari G, Senno LD, Ravine D. 2007. Analysis of published PKD1 gene sequence variants. Nature Genetics 39(4):427-8. [NCBI PubMed Entry]
  2. Gout AM, Martin NC, Brown AF, Ravine D. 2007. PKDB: Polycystic Kidney Disease Mutation Database - a gene variant database for autosomal dominant polycystic kidney disease. Human Mutation 28(7):654-9. [NCBI PubMed Entry]
  3. Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D. 2006. Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. Journal of Medical Genetics 43(6):470-7. [NCBI PubMed Entry]
  4. Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS 4th, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. 2006. Early progressive encephalopathy in boys and MECP2 mutations. Neurology 67(1):164-6. [NCBI PubMed Entry]
  5. Leonard H, Davis MR, Turbett GR, Laing NG, Bower C, Ravine D. 2005. Effectiveness of posthumous molecular diagnosis from a kept baby tooth. Lancet 366(9496):1584. [NCBI PubMed Entry]
  6. McCune CA, Ravine D, Worwood M, Jackson HA, Evans HM, Hutton D. 2003. Screening for hereditary haemochromatosis within families and beyond. Lancet 362(9399):1897-8. [NCBI PubMed Entry]
  7. Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, Torra R, Breuning M, Ravine D for the European PKD1-PKD2 Study Group. 1999. Polycystic kidney disease types 1 and 2: a comparison of phenotypes. Lancet 353(9147):103-7. [NCBI PubMed Entry]
  8. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Johari BM Ali, Ward S, Green AJ, Yates JRW, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. 1997. Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34. Science 277(5327):805-8. [NCBI PubMed Entry]
  9. Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC. 1997. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American Journal of Human Genetics 61(4):843-51. [NCBI PubMed Entry]
  10. Peters DJM, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, Pierides A, Brissenden JE, Frants RR, van Ommen G-JB, Breuning MH. 1993. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nature Genetics 5(4):359-62. [NCBI PubMed Entry]
  11. Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM. 1994. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 343(8901):824-7. [NCBI PubMed Entry]
  12. Ravine D, Walker R, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffield LJ, Kincaid-Smith P, Danks DM. 1992. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340(8831):1330-3. [NCBI PubMed Entry]
  13. Ravine D, Walker RG, Gibson RN, Sheffield LJ, Kincaid-Smith P, Danks DM. 1991. Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease. Lancet 337(8734):127-9. [NCBI PubMed Entry]