0303/2026

Rare Disease Research at LIMS

Every year, the last day of February marks Rare Disease Day, to raise awareness and generate change for the hundreds of millions of people worldwide who live with a rare disease, along with their families and carers.

Did you know:

  • A disease is considered rare if it affects fewer than or equal to 5 in 10,000 people
  • There are more than 7,000 known rare diseases
  • About 2 million people in Australia alone live with a rare disease – more than the population of Adelaide
  • 80 per cent of rare diseases are inherited and genetic in origin
  • Non-genetic rare diseases, including rare cancers, can be caused by environmental factors such as bacterial or viral infections and exposure to chemicals
  • About 75 per cent of rare diseases affect children.

Rare diseases can have a profound impact on the quality of life for people living with these conditions, as well as their families and carers. However, due to complexity and scarcity, rare diseases have been under-researched, there are few or no treatment options available for the majority of rare diseases.

At LIMS, many of our researchers investigate how we can combat several different rare diseases with the hope that health equity and quality of life can be improved for the millions worldwide who live with rare disease.

Rare disease researchers at LIMS include:

Dr Brooke Huuskes
Polycystic Kidney Disease (PKD)

Associate Professor Seb Dworkin
Craniofacial Conditions

Dr Benjamin Gully (Olivia Newton-John Cancer Research Institute)
Gamma Delta T-Cell Lymphoma

Associate Professor Travis Johnson
Rare Genetic Metabolic Disorders

Professor Erinna Lee and Associate Professor Doug Fairlie
Uveal Melanoma, Biliary Tract Cancer, Mesothelioma

Associate Professor Ashley Mansell
Gain of Function Autoinflammatory Inherited Diseases

Dr Kazuhide Shaun Okuda
Primary Lymphoedema

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Find out more about rare diseases:

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