What conditions are you investigating and why?
The immune system is responsible for fighting infection in the body; immune disorders occur when the body mistakenly attacks its own body tissues. This project is investigating a number of immune disorders that have a known genetic basis.
Primary immunodeficiencies (PIDs) is the name given to more than 200 inherited immune conditions causing immune cells and/or antibody production to be absent, reduced, or dysfunctional. Patients experience increased susceptibility to infections, which can be life-threatening, starting anytime from infancy to adulthood.
Systemic auto-inflammatory diseases (SAIDs) are caused by malfunctions of the innate immune system, the first line of defence against infection. SAIDs result in a wide range of chronic, lifelong symptoms, including fevers, severe skin irritations and systemic or organ/tissue-specific inflammation. Most auto-inflammatory diseases are genetic and symptoms start in childhood.
Hereditary angioedema (HAE) is a very rare immune disorder which results in potentially life-threatening tissue swelling (oedema) in parts of the body, including the hands, feet, face, intestinal wall and airway.
What is common to these conditions is that they create a severe impact on people’s daily lives and are typically very difficult to diagnose accurately.
Which patients are involved?
Adults and children who are patients of the Royal Melbourne Hospital, The Royal Children’s Hospital, Austin Health and Monash Medical Centre. These hospitals draw patients from across Victoria.
What is your role in the immunology project?
I am the key coordinating point for all the professionals involved, across the four hospitals. We have regular multidisciplinary meetings, involving clinicians and scientists, to decide which patients will most benefit from a genomic sequencing test. Once patients are selected, I help advise the genetic counsellors who meet with them and their families to discuss the testing and what kinds of results might be expected, so that patients are in the best position to decide whether they wish to have the test.
This work brings together my dual roles as a clinical immunologist at the Royal Melbourne Hospital and immunology researcher with the Walter and Eliza Hall Institute.
What excites you about the project?
I am really excited by the possibility that we could make genomic sequencing more available for use in clinical diagnostics. In immunology, we anticipate that sequencing will improve care for patients, and hopefully help them access more effective treatments for their specific condition.
I believe that the Alliance’s work will lead to great changes in healthcare in general, as well as directly for the immunology patients that I work with on a daily basis.
What do you hope to achieve?
Patients with immune conditions often remain undiagnosed and without appropriate treatment for many years. We call this the “diagnostic odyssey”, and it can result in invasive and unnecessary testing, as well as loss of good health and quality of life. Diagnosing infants is particularly difficult, and children with immunological conditions can grow to adolescence or adulthood without a clear diagnosis.
We are now seeing how genomics can help us achieve more accurate diagnosis more quickly for at least some patients. Diagnosis can make an enormous impact on the management of a patient’s condition, as well as guiding more personalised care.
Over time, it is expected that the use of genomics will result in better understanding of the mechanisms of immune responses, leading to the potential for better, more targeted therapies.
[Image: Dr Charlotte Slade (second from left), with immunology patient Jacky Murphy, colleague Vanessa Bryant, and Parliamentary Secretary for Medical Research, Mr Frank McGuire.]