Lead Researcher:
Associate Professor Dedee F Murrell
Most significant advances or findings in past 10yrs:
We have been studying the genetic blistering disease, epidermolysis bullosa, or “EB” which causes babies to be born with large areas of skin missing and blistering for life. Our research has shown that a rapid technique, set up nationally at St George Hospital, called ‘immunofluorescence mapping’ which detects which of the 13 ‘glues’ in the skin are missing or reduced, is the most accurate and sensitive test to diagnose the condition, leading to prenatal diagnosis for this devastating condition.
At the other end of the age spectrum, we have been studying autoimmune blistering disorders, where the body reacts against its own skin to cause blistering in bullous pemphigoid and pemphigus, trying to develop better disease severity measurements for collaborative international trials on therapy.
Most important aspects of current work
Currently we have recently developed a tool to measure the clinical severity of EB using a Quality of Life questionnaire specifically designed for EB. This is important for measuring the effect of treatment interventions in this chronic incurable condition.
We are embarking on a cell therapy pilot project for one of the most severe forms of EB in collaboration with Professor Fiona Wood in Perth, using skin cells called fibroblasts from an unrelated donor, to regenerate one of the missing proteins in the patients’ skin.
We are also collaborating on validating a scoring system we developed with a panel of international experts for pemphigus.
Recent publications
Yiasemides E, Walton J, Marr P, Villanueva E, Murrell DF: A comparative study of transmission electron microscopy vs immunofluorescence mapping for the diagnosis of epidermolysis bullosa. Am J Dermatopath Oct;28(5):387-94 , 2006. (Awarded the Brenan Prize, Australasian Society for Dermatopathology 2006; cited in Faculty of 1000 as a key paper).
Murrell DF, Amagai M, Barnadas M, Borradori L, Bystryn JC, Cianchini G, Diaz L, Fivenson D, Goldsmith L, Hall R, Harman KE, Hashimoto T, Hertl M, Hunzelmann N, Iranzo P, Joly P, Jonkman MF, Kitajima Y, Korman N, Martin LK, Mimouni D, Pandya A, Payne A, Rubenstein D, Shimizu H, Sinha A, Sirois D, Dick S, Werth V: Consensus statement on definitions of disease endpoints and therapeutic response for pemphigus. J Am Acad Dermatol (In press 2008, accepted Dec 2007; published on line March 11, 2008; doi 10.1016/j.jaad.2008.01.012). (DM and VW were awarded recognition of significant contribution by the International Pemphigus Foundation in 2007).
