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
- 批准号:10472774
- 负责人:
- 金额:$ 171.5万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2019
- 资助国家:美国
- 起止时间:2019-09-15 至 2024-06-30
- 项目状态:已结题
- 来源:
- 关键词:Advanced DevelopmentAffectApoptosisApplications GrantsAssimilationsAtlasesBioinformaticsBiologicalBiological AssayBiologyBiopsy SpecimenBloodBone Marrow TransplantationBrush BorderCell PolarityCell physiologyCellsCellular biologyChildClinicalCollecting CellCommunitiesDNADNA sequencingDataDefectDiarrheaDiseaseDisease modelEpithelialEpithelial CellsFDA approvedFailureFamilyFecesFibroblastsFoundationsGastrointestinal DiseasesGenesGeneticGenetic DiseasesGenomicsGoalsHistopathologyImageInfantInternationalIntestinal DiseasesIntestinesInvestigationIon TransportIonsLeadLifeMedicalMendelian disorderMetadataModelingMolecularMorbidity - disease rateMusMutationNutrientOrganoidsOutcomeParentsPathogenesisPathologicPatientsPediatric HospitalsPhenotypePhysiciansPhysiologicalPhysiologyPluripotent Stem CellsPostdoctoral FellowProspective cohortProtein SortingsProteinsRare DiseasesReagentRegistriesResearchResearch PersonnelResourcesSamplingScientistSerumSignal TransductionSkinSpecimenSymptomsTechnologyTherapeuticTissuesValidationWaterZebrafishabsorptionbasebiobankclinical databaseclinical developmentcohortcongenital immunodeficiencycostdata toolsendosome membraneexome sequencingexperiencegene functionhigh throughput screeningimprovedinduced pluripotent stem cellinterestintestinal epitheliummembermortalitymultidisciplinarynew technologynext generationnovelnovel strategiesnovel therapeutic interventionnovel therapeuticspolarized cellprotein transportrepositoryscreeningsingle-cell RNA sequencingsmall molecule librariesstool sampletechnology developmenttherapeutic candidatetherapeutic genetherapy developmenttraffickingtranscriptome sequencing
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
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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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
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9815928 - 财政年份:2019
- 资助金额:
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$ 171.5万 - 项目类别:
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