Diagnosis and Development Research

Transforming rare disease outcomes in children with earlier, more precise insights through multi-omics

Our interdisciplinary team in the Diagnosis and Development research group at MCRI, brings together experts in genetics and genomics, including laboratory scientists, genetic counsellors, psychologists, clinical scientists, postgraduate researchers, statisticians, and bioinformaticians.

Our emphasis is on the research and development of unique technologies to improve services provided by Victorian Clinical Genetic Services (VCGS), a wholly-owned subsidiary of Murdoch Children's Research Institute.

Our research goal

Our goal is to enable earlier diagnoses and more precise, personalised treatments for inherited rare diseases.

Cutting-edge technologies

We use advanced multi-omics technologies and cohort studies to uncover new insights that improve the lives of children and families affected by inherited rare diseases.

These include conditions associated with intellectual disability, autism, life-threatening obesity, seizures.

We use multi-omics to study biological data such as DNA, RNA, proteins, and metabolites; to provide a more complete understanding of rare diseases and enable earlier, more precise diagnoses and treatments.

Our research focus

Our research program focuses on three key areas, each targeting specific rare diseases. These include:

  • Fragile X syndrome
  • Prader-Willi syndrome (PWS)
  • Angelman syndrome
  • Dup15q syndrome
  • Turner syndrome
  • Sex chromosome aneuploidies such as XXY, XXXY, and XXYY

Key research

Epi-genomic newborn screening (EpiGNs)

Examines feasibility of using a new approach (developed by our group) to screen for these conditions on 100,000 Victorian infants in order to enable diagnosis from birth. This is in contrast to the current standard of care diagnostic testing, where the diagnosis is typically made between 3 and 5 years of age. 

More about our Epi-genomic newborn screening program

Watch more about EpiGNs

Rare disease cohort studies

Involves longitudinal rare disease cohort studies that aim to improve our understanding of molecular and neuro-developmental trajectories associated with these conditions. 

Australian Chromosome 15 imprinting Disorder Biobank

Aims to identify novel points of prognostic utility and intervention through multi-omics studies in the brain and peripheral tissues and in silico drug repurposing studies.

More about the Australian Chromosome 15 Imprinting Disorder Biobank

Contact us

Associate Professor David Godler
Group Leader / Principal Research Fellow
Email: