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Diagnosis and Development

The emphasis of the Diagnosis and Development group is on the acquisition of new knowledge which can be rapidly translated into clinical practice to improve patient management. Emphasis is also on research and development of unique technologies to improve services provided by Victorian Clinical Genetic Services (VCGS) Pathology, a wholly-owned subsidiary of Murdoch Children's Research Institute.

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 is responsible for normal cognitive development and female fertility, can lead to Fragile X Syndrome, autism, premature ovarian failure, developmental delay and other cognitive disorders.

The unit also focuses 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.

The group comprises a team of interdisciplinary researchers, psychologists, students and diagnostics staff that interact on many levels.

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

Group Leaders: 
Group Members: 

A Novel, Simple, Universal Blood Test Based on Copy Number Variants for Organ Transplant Monitoring
(Dr Slater, Dr Bruno and clinical collaborators at the Austin hospital)
This work aims to develop a non-invasive method of monitoring rejection of kidney transplants using DNA derived from plasma from the donor organ. This may replace some or all of the need for regular biopsy and assessment – the current monitoring method. Such an alternative is regarded as a major unmet need. The method should be applicable for any type of organ transplant.

The FREE FX study – Developing new tests for fragile X: Aiming to improve outcomes for children and their families through earlier diagnosis.
The main objective of this study is to trial a number of new highly accurate laboratory methods which can tell us about a person’s level of the FMR1 gene activity. The aim is to determine how soon after birth these tests can be used to predict intellectual disabilities, behavioural problems and autism in children and adults who have expansions in the FMR1 gene. This is a collaborative study between Murdoch Children's Research Institute, La Trobe University, RCH Department of Psychology, University of Melbourne, Hunter Genetics and INTA Fragile X Centre in Chile, funded in part by NHMRC, Pierce Armstrong Trust, Royal Children’s Hospital Foundation, Marian & EH Flank Trust and the Chilean Government. The primary recruitment and assessment centres are located in the Royal Children’s Hospital, Victoria and Hunter Genetics, NSW, australia and in INTA CDTSXF Santiago, Chile.

Epigenotype-phenotype relationships in FMR1-related disorders
This is an NHMRC supported prospective cohort study focusing on characterisation of a novel epigenetic boundary and long range epigenetic modifications specific to FMR1 expansion carriers with behavioural and cognitive disorders, with implications for treatment based on reversal of specific epigenetic modifications at the FMR1 locus.

Improved absolute quantification of RNA toxicity in FMR1 premutation related disorders.
This study aims to validate for the first time the use of a new droplet digital test to predict any increased risk of developing early or late onset disorders. RNA toxicity related to the FMR1 gene has been linked to late onset disorders and early onset development problems, and quantifying this toxicity to predict the likelihood of these disorders occurring is what this test aims to achieve.