$50,000 in 2004
Generating Human Neurons Carrying the Fragile X Mutation
by Katie Clapp , 4/1/2004
Neural stem cells have exciting implications for the potential treatment of many nervous system disorders. Dr. Svendsen, a world-reknown expert in stem cell technology, is growing human neurons that express the Fragile X mutation. These stem cells are generating infinite quantities of neurons in cell culture, in the form of neurospheres, balls of neurons which increase in size. These neurons will be characterized in detail to understand the effects of lack of FMRP. The neurons will be made available to the scientific community.
There are essential differences in biology between mice and humans (not to mention the even greater differences between fruit flies and humans) which make these human neurons invaluable tools to advance studies of Fragile X and evaluate potential treatments. Unlike the mouse and fly neurons, in which the Fragile X gene is deleted (knocked out of the genome), these human neurons contain the actual Fragile X genetic mutation, so that therapeutic strategies aimed at reactivating the gene can be explored.