The aim of this study is to determine the contribution of genetic factors to the pathogenesis of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and autism. Patient-derived cellular models of diseases will be developed, which will require the collection of blood samples from patients and healthy individuals in order to generate induced pluripotent stem cells (iPSCs) for the development of iPSC-derived human cell cultures. These human cellular models will be phenotyped using a variety of methods, including cellular, molecular, and biochemical assays. Because these human cellular models will retain the genetic background from the patients and control subjects, this will allow us to determine the contribution of genetics to disease phenotypes. Such disease-specific pluripotent stem cell lines will be invaluable tools for many basic and translational research applications, including pathophysiological studies in a developmental context, and innovation and screening of small molecule drugs capable of reversing the disease phenotype and potentially leading to a cure for a broad range of diseases, where appropriate in vitro or in vivo disease models do not exist.
Study Type
OBSERVATIONAL
Enrollment
1
University of California, San Francisco
San Francisco, California, United States
Whole blood sample collection
Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.
Time frame: 52 weeks after sample collection
iPSC disease modeling
Use patient-derived iPSCs to develop models of human diseases and to determine the contribution of patient genetic factors to disease pathogenesis
Time frame: 200 weeks after sample collection
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