Single gene disorders affect approximately 300 million people worldwide, creating a huge social and economic burden

Recent technological advances in genetic, genomic and proteomic approaches are revolutionising the face of medicine. In the near future, all patients receiving medical care will benefit from genetic knowledge related to diagnosis, treatment, and how they respond to treatment. This creates a tremendous opportunity for new approaches to diagnoses and treatments across all areas of the health system. To achieve this, there is a pressing need for an enhanced approach to genetics, genomics and related ‘omic’ research across several key areas of the University of Sydney, and Sydney Health Partners has a key role to play in this.

Our work aims to help patients with genetic factors contributing to their disease, including both single and multigenic diseases. 

Several of our researchers are caring for large patient cohorts in the Sydney area with genetic diseases, including those in the areas of cardiac, ocular, renal, immunological, mitochondrial and neurological diseases. In addition, the genomic and genome engineering strategies undertaken through our Network's work are applicable to genetic factors contributing to multigenic and complex diseases such as heart disease, diabetes, and obesity, thereby multiplying the impact of our work.

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