Certified Consultant Biochemical Geneticist, NATA assessor
I am primarily responsible for providing a diagnostic service for inborn errors of metabolism covering the state of Victoria. The laboratory that I supervise provides screening tests for amino acid, organic acid, mucopolysaccharide and purine/pyrimidine disorders.
Testing is also carried out for galactosaemia and disorders of sterol metabolism as well as monitoring metabolite levels in some patients with confirmed inborn errors. Approximately one third of the samples are from patients of the Royal Children’s Hospital, where the lab is situated, with the bulk coming from other Victorian hospitals and private pathology laboratories. My laboratory works closely with clinical geneticists and scientists from Genetic Health Services Victoria and the Murdoch Children’s Research Institute.
I also supervise the laboratory aspects of the expanded newborn screening program using tandem mass spectrometry. In 2000 I introduced this new service and supervised a pilot program and staff training. This work involved the development of software and algorithms to identify abnormals and a novel means of data analysis using multiples of median (MoM) was introduced.
I began working in biochemical genetics in 1984 when I was employed to bring expertise in mass spectrometry to the laboratory. Since 1990 I have been responsible for the overall management of the laboratory. My work involves supervision of all aspects of laboratory work and providing customers with fully interpreted results and advice. A large proportion of the requesting physicians are not experts in the field of inborn errors and this requires frequent consultation and explanation of abnormal results. I also ensure that the most appropriate tests are performed for each patient’s clinical condition, not just those requested. This may require additional consultation and requests for additional specimens in cases where the initial specimen is unsuitable. I function independently in these duties and am widely consulted on questions and advice regarding test interpretation and selection. Some abnormal screening results require additional testing or follow-up and for these cases I coordinate the liaison process between laboratory and clinicians.
Mass spectrometry is a major part of the work of my laboratory and in order to provide the best service to the hospital I also exercise other skills such as organic chemistry and computer programming. I am the sole person in Victoria with the necessary experience and skills to provide this level of service.
In addition to supervising the laboratory service, I also initiate and am involved in research related to inborn errors of metabolism. One of my main interests is the improvement of diagnostic testing for inborn errors through the introduction of new techniques, in particular mass spectrometry. This work has led to the identification of new markers for inborn errors of metabolism, a better understanding of metabolite patterns in inborn errors of metabolism and the identification of the first case of HMG-CoA synthase deficiency. This has also impacted on other areas of clinical biochemistry such as my discovery of transient pyroglutamic aciduria and its association with paracetamol. My current research interests are focused on the use of electrospray and MALDI mass spectrometry to characterise metabolites, proteins, peptides and how best to apply these techniques to the diagnosis and study of inborn errors of metabolism.
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FEATURED Journal article
Small intestinal bacterial overgrowth in children with intestinal failure on home parenteral nutrition
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Honours, Awards and Fellowships
Fellow of the HUman Genetics Society of Australasia
Credentials
Positions
Honorary
Paediatrics Royal Children'S Hospital
Member
Society for the Study of Inborn Errors of Metabolism
Honorary Treasurer, Member Of The Organising Committee
Australasian Society for Inborn Errors of Metabolism (ASIEM)
Education
PhD
La Trobe University
Bachelor of Science (Honours)
University of Melbourne