Faster diagnosis for children with inherited immune system disorders.

The most important function of a normal immune system is to protect the body against infection and maintain overall health, but in some people the immune system goes awry, causing components of the immune system to be missing or not functioning.

For example, autoinflammatory disorders are diseases in which the body’s immune system attacks its own cells. For patients with rare blood disorders such as inherited bone marrow failure syndromes their bone marrow doesn’t produce blood and this significantly increases their risk of developing leukaemia.

This project will use genomic testing as part of a clinical genetic diagnostic service for children with inherited conditions affecting the immune system including:

 

  • immune dysregulation,
  • auto inflammation and
  • genetic bone marrow failure.

Early and accurate genetic diagnosis can significantly improve outcomes for children with these conditions.

Project Investigators

Project leaders engage with and draw upon the expertise of partners within universities, research institutes and hospital and health services around Queensland.

Dr Jane Peake, Children’s Health Queensland Hospital and Health Service (Lead)

Dr John Roy, Children’s Health Queensland Hospital and Health Service

Dr Pasquale Barbaro, Children’s Health Queensland Hospital and Health Service

Dr Alberto Pinzon, Children’s Health Queensland Hospital and Health Service

Dr Luke Droney, Pathology Queensland

Dr Ben Whitehead, Children’s Health Queensland Hospital and Health Service

Dr David Gillis, Pathology Queensland

Dr Trisha Soosay Raj, Children’s Health Queensland Hospital and Health Service

Dr Chris Fraser, Children’s Health Queensland Hospital and Health Service

Dr Di Milnes, Genetic Health Queensland

other whole of life projects