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

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

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Brain and Mitochondrial

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

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Centre for Population Genomics

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

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Diagnosis and Development

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

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Genomic Health Alliances

Coming soon

Genomics in Society

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

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Molecular Therapies

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

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Muscle Research

Coming soon

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).

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Reproductive Epidemiology

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

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Speech & Language

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

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Bruce Lefroy Centre

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

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