Scientist seeks clues on ‘missing’ parts of immune system: Rare Disease Day feature

L-R: Patient advocate Nadine and CCS researcher Dr Emily
Edwards talk about the experience of living with the illness and the
challenges of research into the disease. See video (2:05 mins)

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers

Dr Emily Edwards, a Research Fellow with the Monash Department of Immunology and Pathology at The Alfred precinct, is working to uncover the DNA errors or genetic variants that cause Primary Immunodeficiency (PID), a rare inherited condition where part of the immune system is missing or not functioning as it should.

PIDs vary in severity depending on which part of the immune system is missing or the degree of function lost. Patients are more susceptible to severe and prolonged infections including the common cold, as well as other chronic diseases including autoimmunity, gastrointestinal disease and cancer. 

Dr Edwards is using state-of-the-art genomics to identify the DNA errors causing the condition, and assays to prove whether these errors cause increased or decreased function of immune cells. 

“Using these two technologies we are striving to make a connection between the genetic findings, and immune function to enable genetic diagnosis of disease,” she said.

Her team has recently developed diagnostic tests to assess immune function. “These are important as every individual has numerous DNA errors most of which do not cause disease. At present, identifying the single DNA error that causes disease in patients is like looking for a needle in a haystack.”  

“Then, linking these errors to changes in immune function is challenging, and closing this knowledge gap is ultimately what we need to achieve to enable patient diagnosis,” she said.

“Streamlining the diagnostic strategy for patients will enable faster and more precise diagnosis. This has the potential to direct more targeted treatment of patients, which is urgently required to reduce the early death rate associated with this disease, and  give patients a better quality of life.”

This Rare Disease Day feature and video (2:05 mins) is presented by the CCS Community and Researcher Engagement (CaRE) committee. See more about CaRE: www.monash.edu/medicine/ccs/community-engagement