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Creating a Zebrafish Model of Sanfilippo Syndrome Type A

March 6, 2018

Grant Summary

Institution: Australian Regenerative Institute at Monash University in Melbourne, Australia Investigator: Dr. Jan Kaslin and team Start Date: December 2018 Types of Sanfilippo that benefit: A Research Stage: Translational

Grant Update: May 2021

An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA” was published by Dr. Kaslin and team and peer-reviewed in International Journal of Molecular Science.

Article abstract: The zebrafish mutant exhibits a complete absence of Sgsh enzymatic activity, leading to progressive accumulation of HS degradation products with age. The zebrafish mutant faithfully recapitulate diverse CNS-specific features of MPS IIIA, including neuronal lysosomal overabundance, complex behavioural phenotypes, and profound, lifelong neuroinflammation. … We expect the sgshΔex5−6 zebrafish mutant to be a valuable resource in gaining a better understanding of MPS IIIA pathobiology towards the development of timely and effective therapeutic interventions.

An article reviewer stated, “This is an extremely elegant study … The model was extensively characterized and nicely shown to recapitulate a series of CNS-specific features of MPS IIIA including complex behavioural phenotypes and profound, lifelong neuroinflammation.”

Grant Description

Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation (Australia) are delighted to announce we have collaborated again. This joint grant funding is to the Australian Regenerative Institute at Monash University in Melbourne to create a zebrafish model of Sanfilippo. The project, led by zebrafish disease modelling expert Dr. Jan Kaslin and team, aims to produce a new tool to be used in the fight against Sanfilippo!

Dr. Cara O’Neill, Scientific Director of Cure Sanfilippo Foundation said: “We’re pleased to support Dr. Kaslin’s work which will create a new experimental model for the study of Sanfilippo. Unique aspects of the zebrafish model offer the potential to accelerate the rate of drug discovery for children who are in dire need.”

“We’re excited to be funding this project that could open up new avenues for Sanfilippo research around the world, providing a new tool for understanding this devastating condition and developing much-needed new therapies,” said Megan Donnell, Executive Director of the Sanfilippo Children’s Foundation.

Zebrafish are a useful research tool because they allow quick and precise understanding of the mechanisms of disease and can be used in the search for drugs. Zebrafish have already been used to help unlock a number of biological processes behind diseases such as muscular dystrophy. Zebrafish are transparent so the cellular processes inside their bodies can be watched in real-time under a microscope.

Start Date: February 2018

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