We aim to accelerate the implementation of new genomic technologies in healthcare, particularly for the benefit of children and families affected by rare disease.

Our genomics research broadly focuses on two key strategic areas:  

  1. Increasing diagnostic yield in paediatric rare disease through genomic, muli-omic, and bioinformatic approaches, and 
  2. Implementation of new genomic technologies into the healthcare system to improve patient care 

We lead and facilitate work across a wide range of disciplines, combining well-established and innovative principles of implementation science, psycho-social research and health economics with extensive expertise in translational research, clinical and laboratory service delivery, and technology implementation and validation. 

This not only ensures academic excellence but is critical to ensure that basic research is consistently and rapidly translated into real-life patient impact.