Using stem cells derived from adult blood or skin cells that have been reprogrammed back into an embryonic-like state, we have established these three-dimensional Fragile X tissue cultures in our lab at Emory University. These cells can be developed into any type of human cell, including neurons. They are then formed into three-dimensional structures, much smaller than a pinhead, that include not only synapses connecting neighboring neurons, but also larger circuits of cells. Since all thought, learning, and consciousness happens at the circuit level in the brain, this is a big step forward from studying cells in a flat dish.

This new technology could potentially revolutionize our way of studying human diseases. These models will allow for sophisticated analyses to understand normal human brain development and the differences when Fragile X syndrome is present.

With this grant from FRAXA, we will characterize this new model in detail and identify potential human-specific treatment targets. Armed with these new models, scientists will have another powerful tool to test potential treatments for people with Fragile X syndrome and shorten the time needed to bring such treatments to market.