Rare and undiagnosed genetic disorders

Ending the Diagnostic Odyssey

Imagine what it would be like if your child were born with a mysterious disease. You go from doctor to doctor hunting for a diagnosis and treatment, but no-one can help you. They call it the diagnostic odyssey and it is affecting more people than you might think.

Rare diseases are in fact ‘common’. While a rare disease is defined as affecting less than one individual in 2000, there are between 6000 and 8000 rare diseases, making them collectively a significant burden in both human suffering and health expenditure worldwide.

One in twelve people will be affected by a rare disease at some point in their lives, most of which will require long-term care for often-severe conditions. While 80% of rare diseases are inherited, the gene mutation causing the condition is often unknown. The Simons Group seeks to change that.  

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Dr Cas Simons

Dr Cas Simons

IMB Fellow, Genomics of Development and Disease Division

  +61 7 3346 2080  
  c.simons@uq.edu.au
  IMB Researcher Profile
  UQ Project Three Billion


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  • Mr Guy Helman

    Higher degree by research (PhD/MD) student
    Institute for Molecular Bioscience