Induced Pluripotent Stem Cells for Disease Research

Study Overview
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Brief Summary
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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.

Official Title
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Induced Pluripotent Stem Cells for Disease Research

Conditions
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Hirschsprung Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Individuals with Hirschsprung disease Any disease severity accepted Individuals with or without other health issues accepted Unaffected / healthy relatives of individuals with Hirschsprung disease Exclusion Criteria: Individuals who are unwilling or unable to provide blood sample Individuals who are unwilling or unable to provide informed consent Individuals who are outside the age range permitted for our study will be excluded. Our study will only perform blood draws from individuals ages 13 and above.

Ages Eligible for Study
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Minimum Age: 13 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Individuals with Hirschsprung Disease<br>Individuals with Hirschsprung disease | |
| Unaffected Relatives<br>Unaffected relatives of individuals with Hirschsprung disease | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Hirschsprung Disease