Genetics
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.
Our research
Medical conditions with a genetic cause are common, accounting for around 50% of paediatric hospital admissions. Genetic research is vital to the diagnosis and treatment of genetic disorders, infectious diseases and non-communicable diseases. Genetic research studies human DNA to find out what genes and environmental factors contribute to diseases in our society, with the goal of preventing disease from occurring.
There are over 7,000 rare conditions, collectively accounting for a high proportion of hospital admissions, chronic diseases and deaths in infancy and childhood. New genomic technologies provide the potential to avoid the often long and difficult diagnosis journey that families face, improve early intervention and reduce the associated health care burden on families and the community.
We build our research on expertise in a range of areas and a mix of laboratory, clinical and public health research, epidemiology and genetic screening. These, combined with the clinical and laboratory expertise at Victorian Clinical Genetics Services, mean we translate research into clinical practice, with immediate benefits to patients and families.
Medical conditions with a genetic cause are common, accounting for around 50% of paediatric hospital admissions. Genetic research is vital to the diagnosis and treatment of genetic disorders, infectious diseases and non-communicable diseases. Genetic...
Medical conditions with a genetic cause are common, accounting for around 50% of paediatric hospital admissions. Genetic research is vital to the diagnosis and treatment of genetic disorders, infectious diseases and non-communicable diseases. Genetic research studies human DNA to find out what genes and environmental factors contribute to diseases in our society, with the goal of preventing disease from occurring.
There are over 7,000 rare conditions, collectively accounting for a high proportion of hospital admissions, chronic diseases and deaths in infancy and childhood. New genomic technologies provide the potential to avoid the often long and difficult diagnosis journey that families face, improve early intervention and reduce the associated health care burden on families and the community.
We build our research on expertise in a range of areas and a mix of laboratory, clinical and public health research, epidemiology and genetic screening. These, combined with the clinical and laboratory expertise at Victorian Clinical Genetics Services, mean we translate research into clinical practice, with immediate benefits to patients and families.
Genetics 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.
Molecular Therapies
Improving current and future health outcomes in children with skeletal disorders.
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).
Reproductive Epidemiology
Working to measure, monitor, and maximise longitudinal health outcomes associated with prenatal risk factors.
Speech & Language
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