Western Australian Institute for Medical Research (WAIMR)


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

Dr Carolyn Williams

Carolyn Williams

The opportunity to study with Professor Bob Williamson's group in the University of London, St Mary's Hospital Medical School was a turning point in my scientific career. It was during this time a passion for medical genetics was developed through my involvement in cystic fibrosis (CF) genetic screening. Many new and very powerful molecular techniques were published while I was there, as well as the CF gene sequence and major mutations in Science, each of these major breakthroughs making my own research achievements more meaningful, culminating in several publications in high impact journals including The Lancet.

Due to my success in London and subsequent scientific experiences in Melbourne I was approached by a foreign Non-Government Organisation (NGO) to help establish a National Thalassaemia Molecular Genetic Diagnostic Laboratory in the Maldives. This was a great success resulting in the development of routine molecular genetic screening for over 12 mutations associated with Thalassaemia offered throughout the country.

As Head of the Lung Institute of WA genetics unit the opportunity to contribute in a positive way to medical science and sufferers of lung disease is the stimulating current challenge.

Qualifications

1983BSc (Hons) - University of Western Australia, Australia
1993PhD - Molecular Genetics, University of London, United Kingdom
Thesis Title: "Carrier screening, prenatal diagnosis and single cell analysis of cystic fibrosis genotypes"
1996Grad Dip Dietetics - Curtin University, Australia

Research Interests

Combining the sciences of genetics and nutrition is a relatively new research area recently coined Nutrigenomics. This is an emerging area of increasing interest with the potential to empower people with the knowledge of food types which may be of more or less benefit based on their individual genetic profile. Furthermore, in the case of asthma or inflammatory disease in general, it may be possible to identify food types which either exacerbate or improve the symptoms of disease. By including nutrigenomics in our future research we will further diversify our approach towards finding new and improved treatments for airway inflammatory disease.

Scientific Involvement

  • Australasian Biospecimen Network - Founding Member.
  • SCGH Human Research Ethics Committee - Scientific Advisor.
  • Thoracic Society of Australia and New Zealand - Member.
  • Australian Society for Medical Research - Member.
  • Human Genetics Society of Australia - Member.

Top 10 Publications

  1. Chin-Dusting J, Shennan J, Jones E, Williams C, Kingwell B, Dart A. 2006. Effect of dietary supplementation with beta casein A1 or A2 on markers of disease development in individuals at high risk of cardiovascular disease. British Journal of Nutrition 95:136-144.
  2. Williams C. 2005. Australian attitudes to DNA sample banks and genetic screening. Current Medical Research & Opinion 21(11):1773-1775.
  3. Williams C, Burke K, McPherson J , Kingwell BA, Dart AM. 2005. Folic acid supplementation for 3 weeks reduces pulse pressure and large artery stiffness independently of MTHFR genotype The American Journal of Clinical Nutrition 82:26-31.
  4. Kaye DM, Smirk B, Finch S, Williams C, Esler MD. 2004. Interaction between cardiac sympathetic drive and heart rate in heart failure: modulation by adrenergic receptor genotype. Journal of the American College of Cardiology 44(10):2008-15.
  5. Kaye DM, Smirk B, Williams C, Jennings G, Esler M, Holst D. 2003. Beta-adrenoceptor genotype influences the response to carvedilol in patients with congestive heart failure. Pharmacogenetics 13(7):379-82.
  6. Williams C, Davies D, Williamson R. 1993. Segregation of delF508 and normal CFTR alleles in human sperm. Human Molecular Genetics 2(4):445-448.
  7. Watson EK, Mayall E, Chapple J, Dalziel M, Harrington K, Williams C, Williamson R. 1991. Screening for carriers of cystic fibrosis through primary health care services. British Medical Journal 303(6801):504-507.
  8. Rebello MT, Hackett G, Smith J, Leoffler F, Robson S, MacLachlan N, Beard RW, Rodeck CH, Williamson R, Coleman D, Williams C. 1991. Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease. Prenatal Diagnosis 11(l):41-47.
  9. Watson EK, Mayall ES, Simova L, Thompson E, Warner J, Williamson R, Williams C. 1990. The incidence of the deltaF508 mutation and associated haplotypes in a sample of English CF families. Human Genetics 85(4):435-436.
  10. Williams C, Ivinson A, Smith J, Loeffler F, Coutelle C, Williamson R. 1988. Same-day first trimester antenatal diagnosis of cystic fibrosis by gene amplification. Lancet ii(8602):102-103.