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Clinical Studies

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  • Dihydropyrimidine Dehydrogenase Function in Neural Development and Function Using Human Induced Pluripotent Stem Cell Models Rochester, Minn.

    The purpose of this study is to obtain punch biopsies obtained from individuals with intellectual disability (ID) associated with dihydropyrimidine dehydrogenase (DPD) deficiency and unaffected related controls (e.g., biological parents and/or siblings), to derive patient-specific reprogrammed cells, characterize reprogrammed cells and differentiated neural tissues by comparing molecular genetics and cellular phenotypes through comprehensive gene expression profiles, proteomic analysis, metabolic measurements, and physical measurements, and determine if changes in neural differentiation and/or function can be ameliorated through correction of DPD deficiency, enzyme replacement therapy, or treatment with other compounds.

     
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