The dedication of a group of amyloidosis patients, led by advocate Neil Gibson, has brought a game changing piece of equipment to the PA Hospital campus, with patients all over Australia set to benefit.
A rare disease that occurs when a protein called amyloid builds up in organs, amyloidosis can make organs not work properly. Affected organs can include the heart, kidneys, liver, spleen, nervous system, and digestive tract. The condition can also occur with other diseases.
Now installed at the Translational Research Institute on the PA Hospital grounds, the LEICA LMD7 Microscope will allow researchers to do a highly specialised test to determine which type of amyloidosis a patient has. It can cut a small piece of amyloid out of a tissue sample that can then be run through a mass spectrometer. The results are then used to inform clinicians on the best treatments to give each patient.
“We call this new test an amyloid subtyping assay. From the sample that we cut out using the microscope, the mass spectrometer tells us what protein is causing the amyloid deposit. This test is not available anywhere else in Australia. We have been developing the assay for about 10 years with help from a lot of people including the PA Research Foundation,” PA Hospital’s Professor Peter Mollee said.
“For most patients, the diagnosis of amyloidosis relies on finding amyloid deposits in a tissue biopsy, often taken from an organ that is not working properly. A patient will have a biopsy and it will show an amyloid deposit, but the next step is to work out what protein is causing that amyloid deposit. Working out the type of amyloidosis is critical to getting the right treatment. There are over 30 different proteins which can cause amyloidosis, meaning there’s over 30 different types of amyloidosis.
“It can sometimes be difficult to work out what type of amyloidosis a patient has. There is also a lot of overlap in how the different types of amyloidosis present. Different organs, such as the heart or kidneys, can be affected by a number of types of amyloidosis.
“We have tests in the lab to identify the type of protein in amyloid deposits but they only work in some cases and can often be misleading. This new amyloid subtyping assay is considered the “gold standard” test for correctly diagnosing the type of amyloidosis that a patient has. Getting the correct diagnosis is so important, because if you get the diagnosis wrong you get the treatment wrong. Treatments for various types of amyloidosis are very different and can vary from chemotherapy to an organ transplant or genetic therapy.
“Not only do those treatments have problematic side effects if given to the wrong person, but they won’t work and many are also extraordinarily expensive. . This new test enables clinicians to get the diagnosis right and give the right treatment to the right patient.”
The microscope which is valued at $350,000 was funded through the PA Research Foundation, The Translational Research Institute partners and a successful University of Queensland grant from the Ian Potter Foundation. Prof Mollee said clinicians from across the country will be able to send samples for testing, meaning thousands of patients will benefit from improved outcomes.
Neil Gibson, who sadly passed in 2022, was a tireless advocate for more research funding to help amyloidosis patients, and through his and others fundraising efforts with the PA Research Foundation contributed $100,000 towards the purchase of the microscope. Professor Mollee said he and his fellow clinicians and amyloidosis researchers were incredibly grateful for Neal and the generosity of all the Foundation’s donors, adding that he hopes to name the microscope ‘The Neil’ in Mr Gibson’s honour.
“Amyloidosis is a rare disease, so funding to support patient care, diagnosis and research can be hard to find. When you have a group of patients willing to put time and effort into something that is vitally important like this microscope, which is a critical piece of equipment, it will help every amyloidosis patient not just at the PA Hospital but all over the country,” he said.
“The efforts of Neil and the other friends of the PA Foundation will help all Australian patients with amyloidosis, and that is a fantastic thing.
“If Neil were still here, I think he would be absolutely thrilled that something concrete has happened with all the funds he has raised over the years. We have more projects that we need to find funding for, but getting this laser capture microdissection microscope is a wonderful achievement.”
