Modelling Sanfilippo Syndrome with induced pluripotent stem cell patient-derived neurons

Author: Jenne Tran

  • Thesis download: available for open access on 9 Jun 2027.

Tran, Jenne, 2022 Modelling Sanfilippo Syndrome with induced pluripotent stem cell patient-derived neurons, Flinders University, College of Medicine and Public Health

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This Ph.D. thesis explores novel approaches that increase the precision of human pluripotent stem cell (hPSC)-derived models for modeling neurological disease. Generating functionally mature brain cells like the human brain is necessary to model the brain and its impairments accurately. However, hPSC-derived neuronal models are variable, and hPSC pluripotent fidelity can impact the quality of downstream cell types. Therefore, researchers are interested in methods to reduce technical variabilities and increase experimental reproducibility. This thesis comprises two main topics, divided into three chapters: 1) summarising the outcomes of pre-existing hPSC derived neuronal models from Parkinson’s patients. 2) establishing new strategies to identify technical outliers at various cellular reprogramming and neural differentiation stages. 3) generating neuronal models from Sanfilippo patients for preclinical applications.

Keywords: Sanfilippo Syndrome, MPSIIIA, iPSC, induced pluripotent stem cells, cellular reprogramming, neuronal differentiation, variability, scoring, characterization, pluripotency, disease modelling, neurodevelopmental disorders, neurodegenerative disorders, drug screen, high-throughput imaging, neurons, astrocytes, hESC, SGSH, stem cells, lysosomal storage disorders, imaging, rosette selection, clonal selection

Subject: Biological Sciences thesis

Thesis type: Doctor of Philosophy
Completed: 2022
School: College of Medicine and Public Health
Supervisor: Associate Professor Cedric Bardy