Prof. Peter Mollee: A better diagnosis system for AL amyloidosis
Amyloidosis is an uncommon group of disorders characterised by abnormal fibrillary deposition of proteins in the body. If left untreated the disorder will lead to tissue damage and organ failure, particularly of the heart and kidneys. There are over 30 different subtypes, each associated with a different disorder and different aberrant protein, each requiring specific treatment therapy.
Correct diagnosis of amyloidosis subtype is a critical step to inform correct management of patients and avoid inappropriate therapy. Laser capture microdissection and tandem mass spectrometry analysis of formalin fixed paraffin embedded (FFPE) biopsy samples is emerging as the new gold standard diagnostic technique but needs formal assessment against the current standard of care (immunohistochemistry-IHC) and further analysis.
Further work is required to optimise the assay and formally compare results with the current standard technique of immunohistochemistry.
The aim of this research is to demonstrate the diagnostic superiority of proteomic analysis to subtype amyloid deposits, and improvement in reporting time and accuracy. This research will lead to the ultimate goal of having an amyloid diagnostic assay suitable for introduction into the clinical laboratory.
This project is kindly supported by the Rae and Peter Gunn Family Foundation.