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Discovery & validation of translational biomarkers for Sanfilippo childhood dementia

February 18, 2022
Molecular diagram of heparan sulfate a biomarker for Sanfilippo Syndrome

Page reviewed by: Dr. Cara O’Neill, FAAP and Jan Kaslin, PhD

Page last updated: February 18, 2022

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Grant Summary

Institution: Monash University, Victoria, Australia

Primary Investigator: Jan Kaslin, PhD, Associate Professor at Australian Regenerative Medicine Institute

Duration: 36 months

Start Date: January 2022

Type of Sanfilippo studied: A

Types of Sanfilippo that could benefit: A, possible translation to other subtypes

Research Stage: Translational

Grant Description

Cure Sanfilippo Foundation has co-funded a project led by Jan Kaslin, PhD, of Monash University in collaboration with Dr. Louise O’Keefe and Dr, Nicholas Smith (University of Adelaide) to identify and validate novel peripheral biomarker candidates for use in  monitoring disease progression and response to emerging therapies in patients with Sanfilippo syndrome Type A (MPS IIIA).

Earlier, Dr. Kaslin developed the first-ever zebrafish MPS IIIA model with funding support from the Foundation.

In this model, he has studied transcriptional changes in the brain over time and identified a small cohort of genes that reveal insights into pathological mechanisms and disease progression. He hypothesizes that some of the identified genes could be used as biomarkers since their expression patterns were found to change overtime and in correlation with other disease features.

Validation of these preliminary findings and exploration of additional markers from patient samples and animal models aim to characterize an array based biomarker profile for MPS III. Dr. Kaslin notes that “identification and validation of relevant biomarkers for Sanfilippo syndrome would have broad and immediate impact for clinics and research laboratories worldwide.”

MPS clinician Dr. Smith added, “Access to robust biomarkers of disease progression is possibly the most important tool that is currently missing for MPS III, outside of effective therapies themselves.”

Cure Sanfilippo Foundation is co-funding this research in collaboration with Sanfilippo Children’s Foundation in Australia.

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