Genomic Medicine

We are dedicated to investigating disease mechanisms and clinical conditions that are primarily caused by pathological alterations in genes and chromosomes, with an emphasis on rare genetic diseases.

Humans have around 20,000 genes that determine the health conditions we may experience.

Watch as Clover asks Professor John Christodoulou about how MCRI is leading in the area of genomic medicine.

Watch as Clover asks Professor John Christodoulou about how MCRI is leading in the area of genomic medicine.

Our research

Though individually rare, medical conditions with a genetic cause are collectively common.

Genetic research is vital to the diagnosis and treatment of genetic disorders. It aims to prevent disease from occurring and when disease does occur, genetic research can identify effective treatments.

Over 7,000 rare conditions cause chronic disease, accounting for 50 per cent of paediatric hospital admissions. These chronic diseases are a major cause of death in infancy and childhood. New genomic technologies offer hope for quicker diagnoses, early interventions, and precision therapies.

We build our research using expertise in laboratory, clinical, and public health research, combined with genetic screening. This, alongside Victorian Clinical Genetics Services, translates research into immediate clinical benefits for patients and families.

Genomic Medicine groups

Biomedical Ethics

Researching ethical and societal issues raised by medical technologies - particularly focusing on children.

Explore Biomedical Ethics

Brain and Mitochondrial

Improving diagnosis and outcomes for children and families affected by rare inherited diseases.

Explore Brain and Mitochondrial

Bruce Lefroy Centre

The Centre conducts research into genetic diseases and is made up of two research groups:
  • Genetic Health (BLC)
  • Neurogenetics (BLC)

Explore the Bruce LeFroy Centre

Centre for Population Genomics

Enabling comprehensive disease prediction, accurate diagnosis, and effective therapeutics for all the diverse peoples of Australia.

Explore Population Genomics

Diagnosis and Development

Acquiring and rapidly translating new knowledge into clinical practice to improve patient management.

Explore Diagnosis and Development

Genomics in Society

Evaluating the provision and impact of genomic technologies and genetic services.

Explore Genomics in Society

Muscle Research

Understanding the extremes of muscle performance – from elite athletes to children with muscle disease.

Explore Muscle Research

Molecular Therapies

Improving current and future health outcomes in children with skeletal disorders.

Explore Molecular Therapies

Rare Disease Discovery

To provide precise diagnoses and optimal care, plus access to the latest research and therapies for all individuals with rare diseases. 

Explore Rare Disease Discovery

Reproductive Development

Expertise in human genetics, molecular and developmental biology, to find genes important for sex development, and identify gene defects that cause Disorders of Sexual Development (DSD).

Explore Reproductive Development

Reproductive Epidemiology

Working to measure, monitor, and maximise longitudinal health outcomes associated with prenatal risk factors.

Explore Reproductive Epidemiology

Speech & Language

Researching better diagnosis, prognosis, and treatment for children with speech and language disorders.

Explore Speech & Language

Translational Genomics

To accelerate the implementation of new genomic technologies in healthcare, particularly for the benefit of children and families affected by rare disease.

Explore Translational Genomics