Stem Cells

Autism, Fragile X Syndrome and intellectual disabilities can all be considered neurodevelopmental disorders with their origins rooted in genetic defects and/or gestational or neonatal environmental insults. Although the particular genes and relative contributions of inherited and environmental factors may vary, the aberrant cellular defects are likely to involve common themes, such as impaired neuronal differentiation or connectivity, synaptogenesis or synaptic transmission.

Neuronal and glial cell lines, primary cells and differentiated stem cells in culture, in combination with clinical studies and animal models, are being used by PWC Investigators in the Euan MacDonald Centre for Motor Neurone Disease Research and the Centre for Regenerative Medicine to provide clues as to the cell types, molecular mechanisms and biochemical pathways that lead to these disorders. Human stem cells offer great promise not only for increasing our understanding of the causes of these disorders, but also for drug discovery. Ultimately, patient-derived induced pluripotent cells may be used for drug discovery. Since most neurodevelopmental disorders are not accompanied by neurodegeneration, it is not clear whether stem cell therapies will be useful as a neuroreplacement therapy; however, it should be emphasised that, at present, they are providing a powerful and unique experimental tool to model neurological disorders and drug therapies “in a dish”. Furthermore, although direct clinical application of stem cells is premature, one research avenue we are exploring is the use of stem cell-based technologies to modify the disease environment as a form of putative neuroprotective therapy.

Relevant Investigators

David Wyllie
Giles Hardingham
Ian Wilmut
Siddharthan Chandran

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