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Development of cell model in search for treatments for Sanfilippo

 

In this ground-breaking project, brain cell models will be created that will be used in the search for drugs with the potential to treat Sanfilippo. World-leading researchers in Adelaide will work in partnership with the Sanfilippo Children’s Foundation on this project. 

About this project
The aim of this study is to grow cells in the laboratory from children with Sanfilippo Syndrome that mimic or model what is going on in their brains. 

Researchers will take skin cells from patients and reverse engineer them into neural cells, creating a “brain in a dish” – an individualised representation of a person’s brain. Skin cells from healthy volunteers will also go through the same process.

The researchers will then compare the cells from children with Sanfilippo with those from the healthy children. They will study how they look, how well they are able to transmit signals to each other, what genes are being switched on and off and the processes going on inside the cells. 

They will then add hundreds of different drugs to the cells to see if any of them can improve the health of the Sanfilippo brain cells. Initially this will include drugs that are already used for other conditions and could potentially be repurposed for Sanfilippo. The models will also be useful for testing new therapies already being specifically developed for Sanfilippo.

Cell models from individual patients will be compared to each other, to assess if they respond differently to certain medications or combinations thereof, which is the first step towards personalised therapies for this disease.

Who is doing the research?
A collaborative team will carry out the research led by two Chief Investigators: Assoc. Prof. Kim Hemsley, South Australian Health and Medical Research Institute (SAHMRI) and Dr Nicholas Smith, Women’s and Children’s Hospital, Adelaide.

Dr. Cedric Bardy at SAHMRI and the University of Adelaide’s Professor Mark Hutchinson are the other key team leaders in the project. Dr. Jimmy Breen (SAHMRI) will provide bioinformatic support and a panel of Australian and international experts will help steer the project. 


 


Who is funding the study?
The Sanfilippo Children’s Foundation will fully fund the project having worked with the researchers to secure $2 million from the Federal Government’s Medical Research Future Fund (MRFF) and chipping in a further $500,000 of their own funds.

For further information about this study please contact research@sanfilippo.org.au.

  • Project Title: Development of cell models to be used in the search for treatments for Sanfilippo Syndrome
  • Chief Investigator: Associate Professor Kim Hemsley and Dr Nicholas Smith
  • Amount: $2.5 million (over 2 years)
  • Location: SAHMRI, Women’s and Children’s Hospital, Adelaide and the University of Adelaide
  • Grant Type: Translational
  • Status: Active 
  • Start Date: July 2019