Genetic Metabolic Disorders Service
This page is a research page. For clinical information, please view our metabolic genetics service page on the Sydney Children's Hospitals Network website.
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The Genetic Metabolic Disorders Service is one of the clinical arms of the Western Sydney Genetics Program based at both The Children’s Hospital at Westmead and the Sydney Children’s Hospital, Randwick. We are a multidisciplinary statewide service that provides diagnostic and specialised clinical care for children and adolescents with Inborn Errors of Metabolism (IEM). We are closely integrated with the other laboratory arms of the WSGP, particularly the Newborn Screening Service, the Biochemical Genetics Service and Sydney Genome Diagnostics.
Objectives
The improvement in biochemical and molecular diagnostics has been substantial over the past 20 years: the focus is now shifting towards the use of advanced therapeutics to treat these diagnosed patients. Accordingly, our team is embarking on early-phase interventional therapeutic trials, particularly for disorders with a lack of current treatment options.
Impact
- Using cutting edge biochemical and genomic technologies, we have been directly involved in the discovery of novel genes associated with rare genetic disorders such as CRLS1.
- We have also provided detailed delineations of the natural and treated history of many conditions, including mitochondrial disorders, specific disorders of fatty acid oxidation (HMG-CoA lyase and CACT deficiencies) and lysosomal storage disorders (such as aspartylglucosaminuria).
Collaborators
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Clinical A/Prof Carolyn Ellaway
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Dr Shanti Balasubramaniam
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Conjoint A/Prof Kaustuv Bhattacharya
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Kiera Batten
More team members
- Dr Julie Curtin - Acting Head of Genetic Metabolic Disorders Service
- Dr Kate Lichkus
- Dr Dinusha Pandithan
- Dr Zahrul Ismadi
- Dr Arthavan Selvanathan
- Sue Thompson - Metabolic Dietitian
- Samantha Vibert - Metabolic Dietitian
- Tessa Bollard - Metabolic Dietitian
- Amanda Owers - Metabolic Dietitian
- Jacqui Russell - Nurse Practitioner