Harnessing the power of patient samples to diagnose, understand and treat rare immune diseases
Dr Julia Ellyard and Professor David Fulcher,
Department of Immunology and Infectious Disease, The John Curtin School of Medical Research, ANU
Rapid advances in the speed and cost of DNA sequencing technology are changing our understanding of human disease. By sequencing a patient’s genetic code, changes can be identified that are likely to be disease-causing, an approach that has particular relevance to rare disease. By knowing the DNA sequence in such an individual, we can then study the way genetic changes affect how the body functions, and therefore how diseases arise in the first place. This understanding is critical, as it can open up new treatments that would otherwise never have been considered.
The immediate research challenge however is not only to look for new genetic changes in individual patients, but to prove that those changes are responsible for causing disease. To do so, researchers and clinicians must work together with affected patients, to decipher the genetic code, analyse blood cells, and create laboratory models that can shed light on the effects of such changes.
Coinciding with ‘Rare Disease Day’, this public lecture will outline how clinicians and researchers at the Centre for Personalised Immunology are working together with patients to identify and understand the genetic cause of rare immune diseases, using lupus and immunodeficiency as examples, and how this endeavour has the potential to uncover better ways to treat affected patients.
Doctor Julia Ellyard is a Project Leader for the Centre for Personalised Immunology at The John Curtin School of Medical Research. Her research interests focus on understanding how genetic variants affect immune cell function to cause autoimmune disease. Dr Ellyard completed her PhD from ANU and was awarded the 2008 Dewar Milne Prize for Immunology. After two years at Cambridge University, she returned to JCSMR to work with Professor Carola Vinuesa. In 2014, she was awarded the inaugural Judith Whitworth Fellowship for Gender Equity in Science.
Professor David Fulcher is a specialist Clinical Immunologist and a Chief Investigator for the Centre for Personalised Immunology. His research interests focus on understanding unique genetic changes to explain immunological disease such as Common Variable Immunodeficiency and Lupus. Professor Fulcher has a national reputation in teaching immunology. He works as a Professor of Immunology at The John Curtin School of Medical Research where he coordinates the Advanced and Applied Immunology undergraduate course.