Research area: Genomic Medicine > Diagnosis and Development

Conditions studied

An example of some of the rare genetic conditions included in this study are: 

• Prader-Willi (PWS), Angelman (AS) and Chromosome 15q Duplication (Dup15q) syndromes are genetic conditions that cause varying degrees of intellectual disability and behavioural problems. These syndromes are distinct neurodevelopmental disorders caused by alterations in genes located in a specific region of chromosome 15 (called 15q). 

• Myotonic dystrophy Type 1 (DM1) is an inherited muscle disorder. DM1 is caused by a change in the DMPK gene that results in muscle weakness that can present in childhood or adult life. 

• Chromosome X linked disorders are genetic conditions that are caused by variations found on the X chromosome. There are many chromosome X linked disorders that range in their severity and the symptoms experienced by an affected individual. Males are usually affected more severely than females. 

• Beckwith-Wiedemann (BWS) and Silver-Russell (SRS) syndrome are conditions that can affect growth. They are caused by methylation changes on chromosomes 7 and 11. BWS causes over-growth and SRS causes undergrowth. 

Methodology and outcomes

In this study we will test several new highly accurate laboratory methods, which can tell us about an affected person’s level of methylation and activity of the genes associated with the genetic conditions focused on in this study. We want to find out how early after birth these tests can be used to predict the symptoms associated with each of these conditions.

We hope that this research will lead to earlier diagnosis and treatment of these conditions.

Recruitment and assessment centres

We hope to recruit approximately 600 individuals into this study aged from six months to 45 years. All families that take part will have at least one person with one of the rare genetic conditions included in this study. We expect the project to finish at the end of 2027. 

The primary recruitment and assessment centres are located at: 

• The Royal Children’s Hospital, Melbourne
• Hunter Genetics, NSW, Australia

Collaboration and funding 

This collaborative study involves: 

• Murdoch Children's Research Institute (MCRI)
• The University of Melbourne
• Hunter Genetics
• INTA Fragile X Centre in Chile
• Monash Health

This research is supported by:

• Victorian Government’s Operational Infrastructure Support Program
• National Health and Medical Research Council (NHMRC)
• Foundation for Prader-Willi Research, USA
• Murdoch Children's Research Institute (MCRI)

Contact us 

Dr David Godler, Group Leader / Principal Research Fellow
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