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Murdoch Children's Research Institute was originally established to assist children suffering from serious genetic conditions and has a long history of excellence in this area. 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 ultimate goal of preventing disease from occurring in the first place.

The Genetics Theme is dedicated to investigating disease mechanisms and clinical conditions that are primarily caused by pathological alterations in genes and chromosomes, with emphasis on rare genetic diseases. There are more than 5,000 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.

The team’s globally competitive research is built 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, means research is translated into clinical practice, with immediate benefits to patients and families.

Theme director: