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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Individuals with Hirschsprung Disease | Individuals with Hirschsprung disease | ||
| Unaffected Relatives | Unaffected relatives of individuals with Hirschsprung disease |
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| Measure | Description | Time Frame |
|---|---|---|
| Whole blood sample collection | Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs. | 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 | 200 weeks after sample collection |
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Inclusion Criteria:
Exclusion Criteria:
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Individuals with Hirschsprung disease and their unaffacted family members
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| Name | Affiliation | Role |
|---|---|---|
| Steve Finkbeiner, MD, PhD | University of California, San Francisco | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California, San Francisco | San Francisco | California | 94158 | United States |
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| ID | Term |
|---|---|
| D006627 | Hirschsprung Disease |
| ID | Term |
|---|---|
| D004065 | Digestive System Abnormalities |
| D004066 | Digestive System Diseases |
| D008531 | Megacolon |
| D003108 | Colonic Diseases |
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whole blood
| D007410 |
| Intestinal Diseases |
| D005767 | Gastrointestinal Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |