HA Lecture: Austin Doyle I Prof Seth Masters
| Thursday, December 11, 2025 |
| 8:00 AM - 8:30 AM |
| Hall C Lower Section |
Details
Here I will discuss genes that we have found to be mutated in different autoinflammatory diseases, and how to determine if individual variants are pathogenic in certain cases using different functional tests.
Previously, our work focussed on the NLRP3 inflammasome, for which gene variants can cause Cryopyrin Associated Periodic Syndromes. Characterising these variants and understanding the underlying pathway provides answers for the affected families and facilitates successful anti-inflammatory therapeutic intervention. Now, we have data on the NLRP1 inflammasome variants that cause Familial Self-healing Palmoplantar Carcinoma and related inflammatory diseases.
There are several innate immune pathways which can drive the production of type I IFN production where gene variants can cause interferonopathies. I will present several recently identified gene variants that trigger elevated type I IFN. Some of these genes regulate linear ubiquitination (eg. OTULIN), mitochondrial RNA (eg. REXO2) or downstream innate immune signalling, for example with variants in UNC93B1 that regulate TLR signalling and drive childhood-onset lupus.
Speaker
Prof Seth Masters
Centre for Innate Immunity and Infectious Disease, Hudson Institute of Medical Research
Functional testing in autoinflammatory diseases
Biography
Prof Seth Masters is Centre Head of the Centre for Innate Immunity and Infectious Disease at the Hudson Institute of Medical Research (Australia). He has uncovered the genetic basis for several autoinflammatory diseases and continues to manage the associated Australian Registry, AADRY. Mechanistically this work has defined the innate immune pathways driving inflammation as a result of aberrant proteasome function, retrograde transport and mitochondrial homeostasis. This has led to improved understanding of innate immune pathways in complex disorders such as inflammatory bowel disease and motor neuron disease. Prof Masters is a Scientific Advisor for NRG Therapeutics (UK) and Odyssey Therapeutics (USA) and was appointed as a Fellow of the Viertel Foundation, HHMI-Wellcome Trust and the NHMRC.
Chair
Markus Schlaich
Dobney Chair In Clinical Research
Royal Perth Hospital - University of Western Australia
