Rare Disease Discovery Research

Transforming rare disease diagnosis and care through genomic discovery

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 experience.

Our team is dedicated to improving the lives of children with undiagnosed rare diseases through cutting-edge genomic research and clinical care.

Why this work matters

Although genomic technologies have transformed diagnosis, challenges remain. Precise diagnosis is crucial for rare disease care. It ends the often long and difficult diagnostic journey for families, enables informed management decisions, and helps avoid unnecessary investigations.

Our goals

We aim to:

Provide diagnoses and optimal care for children with rare and undiagnosed conditions using advanced genomic technologies.
Access to the latest research and therapies for all individuals with rare diseases.
Build capacity in the health system by supporting clinicians and researchers.
Collaborate with various groups to transform the rare disease care system.

Research focus

Advanced multi-omics technologies such as long-read genome sequencing and proteomics, have the potential to significantly enhance rare disease diagnoses.

Our group is committed to integrating these tools into clinical care and evaluating their impact on improving outcomes for children and families.

Our objectives

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