ARMI Group Leader Jan Kaslin receives funding to study the rare genetic disease Sanfilippo Syndrome

The Sanfilippo Children’s Foundation and Cure Sanfilippo Foundation have recently announced that it will provide $AUD90,000 during 2018 to fund a project led by ARMI Group Leader Dr Jan Kaslin. 

The prestigious grant will go towards the creation of a zebrafish model of Sanfilippo, a rare genetic metabolic disorder that causes fatal brain damage. Kaslin, a leading expert in the field of neural stem cells and brain regeneration, and zebrafish models is the perfect candidate to develop this new and important tool to fight Sanfilippo. 

‘I am excited to embark on this important project supported by the Sanfilippo Children’s Foundation and Cure Sanfilippo Foundation,’ said Kasin. ‘Sanfilippo is a devastating genetic disorder, and it remains under-researched.’ 

Approximately 1 in 70,000 children are born with the inherited condition, which mostly affects the central nervous system. Sanfilippo is caused by an enzyme deficiency that prevents cells’ natural recycling process, leading to waste accumulation, cellular malfunction and eventually, cell death. 

In the brain, neurons become increasingly damaged by this inability to process cellular waste, causing loss of speech and cognitive skills, mental retardation, dementia, loss of mobility, cardiac dysfunction and finally, death. 

There is currently no treatment or cure available. 

As such, the need for modelling tools to study the disease is of paramount importance. Zebrafish are versatile and powerful tools to examine developmental biology and genetic diseases and disorders. By modifying the SGSH gene that causes Sanfilippo Type A, this zebrafish model will be used to delineate the development of the disorder at the cellular and molecular level in real time. This animal system can also be used in high-throughput drug screening and with ARMI having access to large libraries of candidate molecules, Kaslin has ambitions to find a new drug to treat Sanfilippo. 

Dr. Cara O’Neill, Scientific Director of Cure Sanfilippo Foundation, said, ‘we are pleased to support Dr. Kaslin’s work which will create a new experimental model for the study of Sanfilippo Syndrome. Unique aspects of the zebrafish model offer the potential to accelerate the rate of drug discovery for children who are in dire need.’ Kaslin added, ‘With this project, we will be in a better position to understand not only the basic biology of the disease but also how to treat it.’ 

Contact information 

Dr Jan Kaslin 

Group Leader, ARMI 

Phone: +61 (03) 9902 9613 

Email: jan.kaslin@monash.edu 

Notes to Editors About ARMI

The Australian Regenerative Medicine Institute (ARMI) is dedicated to unlocking the regenerative capabilities of the human body. ARMI is a medical research centre based at the Clayton Campus of Monash University. Boasting 15 research groups studying a variety of regenerative approaches, ARMI is one of the largest regenerative medicine and stem cell research hubs in the world.