Biomarkers are detectable molecules whose levels reflect the presence and severity of a disease process. In the clinic, biomarkers provide essential information regarding disease progression and treatment outcome. A good biomarker or set of biomarkers should be specific for the disease and able to accurately follow its progression and predict future risk for an individual patient. As such, a biomarker needs to be available in biological fluids that can be repeatably accessed (for example, blood/saliva that can be drawn on over time) to keep track of the patient’s progression; rather than cerebrospinal fluid for example that is ethically more risky and challenging to access.

Leanne’s PhD project aims to identify and confirm biomarkers for Sanfilippo syndrome, with an emphasis on the identification of biomarkers from non-invasive biological fluids (blood/saliva). Leanne will first use archival samples to identify and test potential biomarkers, and then observe these in samples from human patients. Results from Leanne’s project can be directly translated into the clinic, with biomarkers used as ongoing tools in predicting the prognosis for patients and measuring if potential Sanfilippo treatments are working in clinical trials.

Project Summary

• Project title: Identification and validation of non-invasively-sourced biomarkers of central nervous system disease in childhood-onset dementia (Sanfilippo syndrome)
• Chief investigator: Leanne Winner’s PhD project will be carried out at Flinders University, under the guidance of A/Prof Kim Hemsley and Dr. Mary-Louise Rogers (Flinders University) and Dr. Marten Snel (SAHMRI).
• Amount: $15,000 over 3 years
• Status: Active

View all funded projects