Sequencing MPNs could change my life

By Ken Young


Ken Young and PhD student Ms Charlene Lam

On Friday 26th February I visited the Australian Centre for Blood Diseases (ACBD), part of Monash University’s Central Clinical school situated at the Alfred Hospital precinct in Prahran. This visit coincided with two important anniversaries occurring this month.  Firstly, since 2008 the last day of February has been observed as Rare Disease Day to raise public awareness of rare diseases and improve access to diagnostic services and treatment for individuals with rare diseases and their families. Secondly, 20 years ago in February 2001, the journals Nature and Science published two seminal papers that revealed the first detailed look at the human genome's nearly complete sequence. These studies launched a new era in biomedicine that has since achieved ever-dropping sequencing costs, improved diagnosis of genetic disorders and brought genomic analysis into standard clinical practice.

But, here is a bit about me. In 1998 I was diagnosed with a rare blood cancer - Polycythemia Vera - one of the three main Philadelphia chromosome-negative myeloproliferative neoplasms. It wasn’t until 7 years after my diagnosis that genetic sequencing showed this is often caused by a single nucleotide change in the JAK2 gene (JAK2-V617F mutation) that disrupts normal blood production by activating JAK2 signalling and in my case makes my blood too thick which can lead to thrombotic events. I am also a member of the ACBD Community and Researcher Engagement Committee which advises ACBD on ways to increase engagement with community members who have experienced a blood disorder or cancer.

So it was with great excitement that I was able to meet with clinician-scientist Professor Andrew Perkins, who leads the Blood Cancer Genomics Group at ACBD and Ms. Charlene Lam a PhD student.  The Perkins Group are working to understand transcriptional control networks which underpin normal blood stem cell production and blood cancers, to then harness this knowledge to cure inherited or acquired human blood diseases such as my Polycythemia Vera. Ms. Lam patiently explained her work to me with illustrations and answering my naïve questions. Ms. Lam was excited to talk about the potential of new molecules that may lead to new treatment options for patients.

Dr Helen Mitchell and Ken Young

We then met with Dr Helen Mitchell and visited the Genomics Core of the Central Clinical School of Monash University and The Alfred Hospital Molecular Pathology Laboratory. The Nova Seq 6000 DNA sequencing machine was running. The first whole human genome took 10 years to sequence. This machine can now do 20 in 48 hours. This March, the ACBD is launching a Community Engagement Program. This program aims to connect dedicated researchers at the ACBD with community members who have experienced a blood disorder or cancer. Consumers will be partnered with researchers or a research group, bringing their valuable lived experiences to the team and contributing to our shared goal of turning new discoveries into better patient outcomes. Levels of consumer involvement will be tailored to individual preferences and time availability. People of all ages, diversity, and lived consumer experience are encouraged to apply.


Prof Andrew Perkins and Ken Young

Professor Perkins gave me a concrete example of why community engagement in research is important. Genetic sequencing that can save lives is unfunded. But, informed and active community members are able to advocate to Government to change this situation.

So, have a great Rare Disease Day and join us in the Community Engagement Program so we can together raise public awareness of rare blood diseases.