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Human Induced Pluripotent Stem Cells (hiPSC) in Rett syndrome

Principal Investigator:

Skin biopsy will be obtained for fibroblast culture from patients with a known MECP2 mutation as well as skin fibroblasts already present in the KKI’s tissue repository from patients with known mutations in the MECP2 gene. We propose to convert human skin cells to novel cellular types such as embryonic stem cells that can be changed to another type of cell, which in our case would be a brain nerve cell (neuron) or support cell (astrocyte/glia). Such an alteration would generate brain cells of interest in Rett syndrome with different mutations in the MECP2 gene, without having to do a brain biopsy for pathobiological studies.

The biological differences in the function of cells with the various mutations will enable a better understanding of the abnormalities in brain function in Rett syndrome and facilitate rational treatments.

Bradley L. Schlaggar, M.D., Ph.D., Named President and CEO of Kennedy Krieger Institute

We’re thrilled to welcome Bradley L. Schlaggar, M.D., Ph.D., to the Kennedy Krieger family as our next President and CEO.
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