Help Raise Funds for RFC1 – CANVAS Research Tribute to Dušan

I am Nanette Presswell, GP in St Kilda and I am fundraising to support research into RFC1 CANVAS, a rare genetic neurodegenerative disease that has deeply affected my family.

Two years ago, I lost my beloved partner and soulmate, Dusan Stojanovich, after 20-year illness . He passed away at 73 due to complications from CANVAS. Dusan was one of four brothers, all of whom have CANVAS. Just two months after he died, his brother John also succumbed to the disease at 70. Today, their two remaining brothers, George and Steven, continue to live with this disabling illness CANVAS. Despite the immense challenges, our family remains bound by love, connection, and a shared sense of joy and fun across generations.

Dusan was a brilliant, creative soul—an artist, poet, and thinker who nurtured curiosity and creativity in those around him. He also loved his family dearly. His passion for creativity never wavered, even as the disease progressed. With support, he continued painting until the very end. He was also deeply interested in understanding the nature of RFC1 CANVAS, a reflection of his lifelong intellectual curiosity.

CANVAS (cerebellar ataxia neuropathy vestibular areflexia syndrome) includes damage to the cerebellum, our peripheral nerves and inner ear. This rare and debilitating condition typically progresses slowly over several decades and may severely impacts quality of life, making everyday tasks like walking, speaking, and swallowing increasingly difficult. It is important to note that there is a wide spectrum in both presentation and progression and ongoing natural history studies aim to provide greater insight into these variations. Over time, symptoms worsen, which may lead to loss of independence and significant physical and emotional challenges.

There is no cure—only symptom management. Those affected must navigate ongoing medical care, therapies, and support just to maintain comfort and dignity. More research is needed.

I am raising funds to support the Bruce Lefroy Centre (BLC) at the Murdoch Children’s Research Institute (MCRI). The BLC conducts pioneering research on neurogenetic diseases affecting both children and adults and is at the forefront of studies on repeat expansion disorders, inherited conditions caused by an increase in repetitive DNA sequences. RFC1 – CANVAS Spectrum Disorder is repeat expansion disorder.

The BLC was one of two research teams that discovered the RFC1 genetic fault as the cause of CANVAS in 2019 and diagnosed Dusan and his brothers. Since then, they have led groundbreaking research, developing the first stem cell models of RFC1 CANVAS using blood samples from affected individuals. These 2D models have allowed scientists to study faulty nerve cells, compare them with healthy ones, and identify key differences or “markers” that provide insight into disease mechanisms.

The next step is to generate a 3D model containing Purkinje neurons, the key cell type that is selectively lost, driving disease development and progression. This will allow the team to study and understand the mechanisms of neurodegeneration in CANVAS, providing crucial insights into disease pathogenesis. While this model will not replicate a fully developed cerebellum, it will enable targeted research into the specific cellular processes driving the disease.

To honour Dusan’s memory and his passion for inquiry, I am dedicated to supporting this critical research. Please consider making a donation to help advance this research in memory of Dusan, and for our family and the many families affected by CANVAS.