CaRE in action: patients key to blood cancer lobbying success: Rare Disease Day feature

L-R: Patient advocate Ken and researcher Professor Andrew
Perkins talk about the experience of living with the illness and
the challenges of research into the disease. Video (2:19 mins)

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers  

Clinician-scientist Professor Andrew Perkins, who heads the Blood Cancer Genomics team at the ACBD, has for 12 years researched myeloproliferative neoplasms (MPNs). MPNs are a diverse group of chronic blood cancers. Myelofibrosis (MF) is at the severe end of the spectrum. 

Professor Perkins said one in 100,000 people have MF and that one in 100,000 people have its precursors. “People tend to live for a few years to a couple of decades after diagnosis and slowly worsen,” he said. “The most common causes of morbidity are stroke and heart attack. There’s an inevitable progression to acute leukaemia, which is essentially untreatable and terminal in these patients. 

“So we want to know why they get the diseases and how to predict them, and intervene to prevent them.” 

Professor Perkins’ lab has successfully used genomics techniques to discover new druggable target genes that work in the JAK-STAT signalling pathway that underpins the MPNs. 

But one of the biggest successes has been working with consumers to successfully lobby the Federal Government to introduce a PBS rebate for genetic sequencing so that patients don’t have to send their samples overseas at a cost of around $5,000.

“Patients themselves have been key to this success story, as they are always the ones that leverage politicians better than doctors can,” Professor Perkins said. “Ken Young and his colleagues at the MPN Alliance (Australia) and other advocacy lobby groups (Ruby Red Foundation and others) have worked with the Leukaemia Foundation to lobby the Federal Government to eventually get this great outcome,” he said.

“Patients with MPNs and their treating doctors are grateful to the Health Minister and his office with respect to this outcome. It will lead to new targeted treatments for patients.” 

Professor Perkins is currently establishing a national registry of patients with myeloproliferative neoplasms using data from 50 hospitals throughout Australia and New Zealand, supported by the Australasian Leukaemia & Lymphoma Group (ALLG).

On the research front, PhD student Charlene Lam is on the verge of publishing a study that has used genetic experiments to identify new targetable pathways involved in the pathogenesis of myeloproliferative neoplasms, and Dr Liesl Butler has found a new cause of inherited MPNs. 

Charlene has formed a strong working relationship and mutual understanding with Ken Young and the MPN Alliance, Professor Perkins said. Dr Karen Alt and her CaRE team have facilitated closer interactions between scientists and consumers with mutually beneficial outcomes, he said.

See the video of Ken Young, and Prof Perkins respectively talking about the lived experience of the disease and its research challenges.

This Rare Disease Day feature is presented by the CCS Community and Researcher Engagement (CaRE) committee. See more about CaRE: www.monash.edu/medicine/ccs/community-engagement