The Children's Hospital at Westmead Clinical School

Genetic Metabolic Diseases Research Group

  • The Biology of Rett Syndrome: MECP2 Mutations and Beyond
  • The Molecular Pathogenesis of Mitochondrial Respiratory Chain Disorders
  • Genetically Engineered Probiotics for the Treatment of Human Disease: Phenylketonuria as a Model Disease
  • Gene Discovery in Unique Mendelian Disorders

Academic Department of Medical Genetics

  • Diagnosis and Management of Bone Dysplasias and other rare disorders
  • Clinical Genomics
  • Biomedical Informatics/Big Data in Medicine

Biochemical Genetics

  • Metabolite studies in mouse models of gene therapy for inborn errors of metabolism
  • Expanded urine metabolite screening
  • Fatty acid oxidation studies

Newborn Screening

  • The use of MSMS in Newborn Screening
  • Techniques to diagnose and monitor galactosaemia
  • Protocols for evaluation of thyroid function for full-term and premature newborns
  • The impact of MPL on newborn screening practice
  • Screening for SCID
  • Screening for CAH
  • Screening for DMD

Clinical Genetics

  • Marfan Research
  • Eye and Developmental genetics


The Neurogenetics Research Unit and the Institute for Neuromuscular Research now have five teams working on various aspects of skeletal muscle structure, function, disease and therapies, as well as research into Neurofibromatosis type 1.

  • Alpha-Actinins and their effect on skeletal muscle performance
  • Identifying new treatments for neuromuscular disorders
  • Identifying new causes of the congenital myopathies and muscular dystrophies and the consequences of these disorders
  • The role of dysferlin in skeletal muscle
  • Cognitive deficits in Neurofibromatosis type 1.

For more information please consult Institute for Neuromuscular Research website:


G-band karyotype, fluorescence in-situ hybridisation (FISH), QF-PCR and chromosome microarray investigation of:

  • Congenital birth defects, developmental delay, intellectual deficit/mental retardation, autistic spectrum and other behavioural disorders
  • Reproductive health concerns related to infertility and miscarriage, including prenatal diagnosis of fetal chromosome abnormalities
  • Paediatric and Adult Haematological malignancies (Leukaemia) and solid tumours

Molecular Genetics

Molecular Genetics Department works in collaboration with research groups within The Children's Hospital at Westmead, including:

  • Developmental eye research work
  • Metabolic research laboratory
  • Department of Nephrology