The Rare Disease Discovery group at Murdoch Children’s Research Institute (MCRI), led by Professors Tiong Tan and Sue White, brings together more than 35 years of clinical genetics expertise to improve the lives of children with undiagnosed rare diseases.

Our group aims to provide precise diagnoses and optimal care, plus access to the latest research and therapies for all individuals with rare diseases. Collaboration with various groups is central to our mission of transforming the rare disease care system.

A precise diagnosis is crucial for rare disease care, ending the diagnostic journey for families and enabling us to make informed management decisions while avoiding unnecessary investigations.

Although genomic technologies have transformed diagnosis, challenges remain.

Advanced 'multi-omics' technologies, like long-read genome sequencing and proteomics, have the potential to enhance rare disease diagnoses. Our group is dedicated to integrating these tools into care and assessing their impact on improving outcomes.

Our objectives

  1. Innovate: Use new technologies to find diagnoses in undiagnosed children.
  2. Collaborate: Engage with health professionals for skill development and connect with global researchers.
  3. Transform: Implement a whole-of-system approach to accelerate rare disease care.