PhD Scholarship: Using the brain in a dish model to screen drugs for Sanfilippo

The Sanfilippo Children’s Foundation is proud to provide a supplementary scholarship to Ella McDonald, who is undertaking a PhD on Sanfilippo syndrome at Flinders University under the guidance of Associate Professor Cedric Bardy. The top-up scholarship will support Ella to undertake training and travel for conferences and collaboration during her PhD.

Ella’s project will focus on identifying potential drug candidates for Sanfilippo that can stop or halt the disease, reduce symptoms, and improve quality of life. To do this, she will be working with the Sanfilippo Brain in a Dish team to screen 60 drugs previously approved for other conditions to see if any can be repurposed for Sanfilippo.

Ella will use the induced pluripotent stem cells, or iPSCs, previously generated in the ‘Brain in a Dish’ project in collaboration with chief investigators Prof. Kim Hemsley (Flinders University) and Dr Nicholas Smith (Women’s and Children’s Hospital, Adelaide), and investigators Dr. Cedric Bardy (Flinders University and SAHMRI) and Prof. Mark Hutchinson (The University of Adelaide).

The iPSCs are developed in the laboratory from the skin cells of patients with Sanfilippo. The skin cells are first reprogrammed into a stem cell state and then matured into neuronal cells to provide a model of human Sanfilippo brain tissue in the laboratory dish.

In her project, Ella will work with the team to test the 60 repurposed drugs on the iPSC-derived neuronal cells to see if they can restore any aspects of cell function that are lost or damaged in the Sanfilippo cells. The aim will be to identify the four most promising drug candidates. These top candidates will be further investigated in each of the patients’ cell lines by looking at how they influence important gene products and cell functions. 

As the drugs tested in the project have been investigated for other conditions, it will hopefully reduce the time for any promising candidates to reach patients.

In accepting the grant Ella said, “Sanfilippo has a major burden on the children and families living with this horrible disease, so being able to provide even a glimmer of hope will be incredible.”

Dr Lisa Melton, Head of Research at the Sanfilippo Children’s Foundation said, “Supporting young scientists to work on Sanfilippo syndrome while receiving a high standard of training, research experiences and opportunities is a crucial part of our goal to increase the capacity for Sanfilippo research in Australia. We are delighted to be supporting this outstanding young student in her work on this important project.”

Project Summary

  • Project title: Pre-clinical iPSC-neuron screen of repurposed drugs for children with a form of dementia
  • Chief investigators: Ella McDonald (Flinders University), supervised by Assoc. Prof. Cedric Bardy (Flinders University and South Australian Health and Medical Research Institute (SAHMRI))
  • Amount: $15,000
  • Location: Adelaide, Australia
  • Status: Active

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