Although around 1.15 million people in Australia suffer from autoimmune diseases, these devastating and painful conditions don’t tend to receive the same spotlight that cancer or heart disease regularly receive.
Thankfully, one of Australia’s best and brightest young scientific minds, Dr Joanne Reed, from the Garvan Institute of Medical Research, is passionately committed to demystifying autoimmune diseases and has made great inroads into vital research.
Last October State Custodians awarded Joanne a $25,000 grant for the 2017 State Custodians’ Young Garvan Edgy Ideas Award for her tireless and innovative efforts in this field.
Now halfway through her post-award year, we caught up with Joanne to see what she’s been up to and to hear more about her amazing world first discovery.
Basically, I wanted to focus on tracking down the immune cells that actually cause autoimmune diseases such as lupus, type one diabetes, rheumatoid arthritis and Sjogren’s syndrome.
We’ve been able to do this in the laboratory through sequencing cells and antibodies, but up to now it’s taken a lot of time and money to do so. We want to bring the costs down so we can track the cells for all patients and get an understanding of how they work for each individual. So my idea was to use all the information we have gathered from sequencing rogue cells in a different technique called flow cytometry, which is capable of looking at thousands of cells per second. This will then free up time and resources in order to concentrate on finding cures.
The research is progressing well. The team has screened 38 patients with Sjogren’s syndrome and lupus looking for disease causing rogue cells in their blood using flow cytometry. We have been able to identify cells that have similar features as the rogue cells we identified previously. One of our major findings is that each patient has subtle differences in their rogue cells. We think these differences may explain why some patients respond to therapy and others don’t.
The data so far shows that the lower cost flow cytometry method is an efficient way to identify rogue cells in some patients - but not in everyone we have screened. As a result, we have implemented flow cytometry as a first step in our screening process. However, for the subset of patients with indistinguishable rogue cells we still need to use genomic sequencing techniques.
The finding that each patient has differences in their rogue cells has led us to develop a flow cytometry method that can assess more markers on the cell surface. When we first started the project six months ago we were simultaneously measuring 11 different proteins on the cell surface in an attempt to find the combination of proteins that defined disease causing rogue cells.
We have now advanced this technology to 24 different proteins, which we measure on over 2000 blood cells per second. This advance in technology has allowed us to identify rogue cells in a more varied population of cells. Importantly, it has allowed us to characterise more therapeutic targets in our patients.
There has been one particular protein present on the surface of rogue cells that has appeared in a number of patients and there is a drug available that targets this protein. To follow up on this promising finding we are working with clinicians that have enrolled their patients in clinical trials of this drug to measure rogue cells in patient blood before and after treatment.
Being able to identify the cells responsible for disease pathology in patients with autoimmune disease is a world first so we’re thrilled about that! It’s such an exciting development because it allows us to track the development of these cells over time and in response to therapy. Importantly it allows us to answer questions about how these cells persist and cause disease and hopefully identify “chinks in their armor” – what makes them susceptible to new drugs and immunotherapy. This brings us closer to being able to eliminate the cells that are causing autoimmune disease as opposed to treating the symptoms as they occur.
This research has been very well received by the scientific community. I have received invitations to present my work at conferences both nationally and internationally. Next month I will be presenting this research at an autoimmune disease focused conference in Germany which is very exciting!
The focus is to complete flow cytometry screening to identify rogue cells in the additional 22 patients recruited for this study. Once this is completed we can determine whether there is a relationship between rogue cells with disease activity, symptoms and treatment. We will also continue to develop our flow cytometry method to expand the number of proteins and therapeutic targets we can evaluate in patient blood.
Based on the promising data evaluating disease causing rogue cells in Sjogren’s syndrome, we will be embarking on an ambitious program to identify rogue cells in 36 different autoimmune diseases. This program, called HOPE research, will use the latest genomic technology to analyse rogue cells to determine their origin. We are testing the idea that different autoimmune diseases have the same underlying cause – the development of rogue cells, which arise because they acquire “bad mutations”, which enable their survival.
The Edgy Ideas Award has provided me with the means to test a novel idea in its very early stages. Generally more traditional funding models do not fund ideas without a lot of preliminary data to support the idea. The great thing about philanthropic support from groups like State Custodians is that they allow these higher risk but higher impact kind of research ideas to be tested earlier. It’s been a total honour to win this award!
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