The Biochemical Genetics Service is one of the clinical arms of the Western Sydney Genetics Program (WSGP) based at The Children’s Hospital at Westmead. We are a multidisciplinary statewide service that provides diagnostic and biochemical monitoring 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 and the Genetic Metabolic Disorders Service. 

Objectives

As new therapies in rare disorders are translated to patient care, the need for monitoring efficacy of these treatments become increasingly important. Therefore, our main research objective is to investigate the current biomarkers for disease and to discover novel biomarkers to support diagnosis and monitoring of patients with rare disorders. 

Collaborators