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

  • Genetics and treatment of Osteopenic and other Bone and Mineral Disorders of childhood
  • Characterization of the Molecular Genetics and Pathogenesis of specific skeletal birth defects in mouse and man
  • Consanguinity and Paediatric Morbidity / Population Genetics of Consanguinity in Middle Eastern Population
  • Evaluation of Innovative Genetic Therapies in Children
  • Clinical and molecular correlation in Connective Tissue Dysplasias

Biochemical Genetics and Newborn Screening

  • The evaluation of tandem mass spectrometry in newborn screening.
  • Studies in vitamin B12 deficiencies

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:


  • Neuropsychiatry and developmental disorders
  • Molecular cytogenetics of Marker chromosomes

Molecular Genetics

  • Molecular genetics of complex disorders – multiple sclerosis
  • Molecular genetics of complex disorders – atopic dematitis