Our Moon's Mission A third patient sample for SPG56 research

Precious blood donations bolster hope for a cure

Thanks to the hard work of many, Genetic Cures for Kids’ researchers will soon recieve more blood samples from an SPG56 patient and her parents. From these precious samples, they will grow more organoids and help develop a cure for SPG56.

When Tallulah was diagnosed as the only person in Australia with this ultra rare disease, our mission to find a cure seemed like a moonshot. However, as research has progressed quickly and attracted international attention, GC4K has been fortunate enough to see families from overseas travel to Australia, and connect with our foundation in order to give blood, which bolsters our research and expands the possibility of finding a treatment that helps many.

In April, GC4K recieved a second family’s blood samples and they have been incorporated into studies at both GRIDD and AIBN to better undersand the disease and how to treat it.

This month, thanks to swift coordination of the Murdoch Children’s Research Institute (MCRI) and the Australian Institute of Bioengineering and Nanotechnology (AIBN), GC4K secured a third family’s samples, while the Jain family were holidaying in Melbourne.

The team at the MCRI chose to help us over the busy holiday season, and went out of their way to visit the Jain family in their holiday home, where they carefully took blood samples from all family members. These samples were then rushed back to the lab and spun to collect the white blood cells. Next, the blood cells will be sent up to the team at the AIBN, where Dr Hannah Leeson will use the white blood cells to make induced pluripotent stem cells (ipscs), and turn the ipscs into neurons and brain organoids. 

We are so grateful to the Jain family for contributing to this important SPG56 research, and extend our heartfelt thanks to all of the professionals at MCRI and AIBN who have gone above and beyond to help our small but important foundation get this additional sample.

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