Diagnosis and Development

Research area:  Genetics

Acquire and rapidly translate new knowledge into clinical practice to improve patient management.

Our emphasis is on the research and development of unique technologies to improve services provided by Victorian Clinical Genetic Services (VCGS) Pathology, a wholly-owned subsidiary of Murdoch Childrens Research Institute. We comprise interdisciplinary researchers, psychologists, students and diagnostics staff that interact on many levels.

Using the clinical resources of the VCGS Clinical Genetics group, Cytogenetics, Molecular Genetics and Newborn Screening laboratories, the group focuses on the neurogenetics and epigenetics of disorders related to the FMR1 gene. Mutations of this gene, which handles normal cognitive development and female fertility, can lead to Fragile X Syndrome, autism, premature ovarian failure, developmental delay and other cognitive disorders.

We also focus on:

  • diagnosis of chromosome abnormalities,
  • non-invasive prenatal testing and organ transplantation research (kidney, heart, lung, bone marrow)
  • assay development for population screening of Fragile X Syndrome.

Over the past five years, the group has produced several patent families, and high-impact publications and began several nationwide clinical trials on inventions expected to improve the diagnosis and management of children with Fragile X-related disorders or with organ transplants.

Contact us

A/Professor David Godler