COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository

先天性腹泻和肠病 (PediCODE) 联盟和 BioRepository

基本信息

项目摘要

PROJECT SUMMARY/ABSTRACT: The goals of this grant application are to develop the PediCODE Consortium and Biorepository and to identify the monogenic causes of COngenital Diarrhea and Enteropathy (CODE). The CODE disorders are rare monogenic disorders that are under-researched and associated with an enormous management costs and adverse life-long outcomes. We will characterize their clinical and pathophysiological features of these disorders and develop a clinical database and biorepository of disease-specific cells, tissues, and other primary patient materials. We anticipate that through these efforts we will identify novel genes implicated in CODE, while we establish a unique resource enabling mechanistic studies on both known and unknown causal CODE genes. To achieve these goals, we have assembled a multidisciplinary group of Physician-Scientists that have interest and experience in cell biology and genetic disorders that result in diarrhea. Our goals will be accomplished with three aims. We will initially develop a prospective cohort and registry of affected CODE children and follow their clinical course. We will also perform or gather data of whole exome sequencing from the majority of these patients, and we will develop a CODE tissue histopathology atlas from biopsy samples. The consortium will also collect cell samples (intestinal epithelium, blood and skin fibroblasts), as well as serum and stool samples. We will investigate the enteroids generated from the biopsy samples, and/or generate intestinal organoids from pluripotent stem cells, and these will be characterized and validated by immunostaining and RNA sequencing. We will then utilize existing and develop novel technologies to characterize and investigate the epithelial phenotypes of CODE disorders using polarized cells, patient-derived enteroids and disease-specific zebrafish models. Finally, we will seek to characterize functional alterations in a minimum of 4 novel disorders from our cohort of CODE patients. This in-depth analysis will include functional characterization using intestinal organoids where we will assess barrier formation, active ion and water transport, and vesicular trafficking/protein sorting. We anticipate that the PediCODE Consortium and Biorepository will be a rich resource for patients and their families, clinicians and bench researchers. We anticipate that these efforts will expand our understanding of CODE disorders and identify novel approaches for improving clinical symptoms of affected children.
项目总结/文摘:

项目成果

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JAMES Richard GOLDENRING其他文献

JAMES Richard GOLDENRING的其他文献

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{{ truncateString('JAMES Richard GOLDENRING', 18)}}的其他基金

COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository
先天性腹泻和肠病 (PediCODE) 联盟和 BioRepository
  • 批准号:
    10013219
  • 财政年份:
    2019
  • 资助金额:
    $ 171.5万
  • 项目类别:
COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository
先天性腹泻和肠病 (PediCODE) 联盟和 BioRepository
  • 批准号:
    10200797
  • 财政年份:
    2019
  • 资助金额:
    $ 171.5万
  • 项目类别:
COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository
先天性腹泻和肠病 (PediCODE) 联盟和 BioRepository
  • 批准号:
    10683735
  • 财政年份:
    2019
  • 资助金额:
    $ 171.5万
  • 项目类别:
COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository
先天性腹泻和肠病 (PediCODE) 联盟和 BioRepository
  • 批准号:
    9815928
  • 财政年份:
    2019
  • 资助金额:
    $ 171.5万
  • 项目类别:
Generating a Porcine Model for Human Microvillus Inclusion Disease (MVID) by Gene Editing
通过基因编辑生成人类微绒毛包涵体病 (MVID) 猪模型
  • 批准号:
    9141460
  • 财政年份:
    2016
  • 资助金额:
    $ 171.5万
  • 项目类别:
Mouse model of invasive colon cancer
侵袭性结肠癌小鼠模型
  • 批准号:
    8878756
  • 财政年份:
    2015
  • 资助金额:
    $ 171.5万
  • 项目类别:
Arcturus XT-TI Laser Capture Microdissection Instrument
Arcturus XT-TI 激光捕获显微切割仪器
  • 批准号:
    8948705
  • 财政年份:
    2015
  • 资助金额:
    $ 171.5万
  • 项目类别:
Mouse model of invasive colon cancer
侵袭性结肠癌小鼠模型
  • 批准号:
    9248192
  • 财政年份:
    2015
  • 资助金额:
    $ 171.5万
  • 项目类别:
Mouse model of invasive colon cancer
侵袭性结肠癌小鼠模型
  • 批准号:
    9043831
  • 财政年份:
    2015
  • 资助金额:
    $ 171.5万
  • 项目类别:
Induction and Evolution of Metaplasia in the Stomach
胃化生的诱导和进化
  • 批准号:
    9278155
  • 财政年份:
    2014
  • 资助金额:
    $ 171.5万
  • 项目类别:

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