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
Brain and Mitochondrial
Bruce Lefroy Centre
- Genetic Health (BLC)
- Neurogenetics (BLC)
Centre for Population Genomics
Diagnosis and Development
Genomics in Society
Evaluating the provision and impact of genomic technologies and genetic services.
Muscle Research
Understanding the extremes of muscle performance – from elite athletes to children with muscle disease.
Molecular Therapies
Improving current and future health outcomes in children with skeletal disorders.
Rare Disease Discovery
To provide precise diagnoses and optimal care, plus access to the latest research and therapies for all individuals with rare diseases.
Reproductive Development
Expertise in human genetics, molecular and developmental biology, to find genes important for sex development, and identify gene defects that cause Differences of Sexual Development (DSD).
Reproductive Epidemiology
Working to measure, monitor, and maximise longitudinal health outcomes associated with prenatal risk factors.
Speech & Language
Translational Genomics