grant

Genetic Analysis of Hirschsprung Disease - Renewal

Organization NEW YORK UNIVERSITY SCHOOL OF MEDICINELocation NEW YORK, UNITED STATESPosted 1 Apr 1991Deadline 31 Aug 2026
NIHUS FederalResearch GrantFY20240-11 years old21+ years oldATRAAdultAdult HumanAganglionic MegacolonAllelesAllelomorphsAssayAtlasesAttentionAttenuatedAwardBasal Transcription FactorBasal transcription factor genesBenignBioassayBiological AssayBiological FunctionBiological ProcessBirthBody TissuesCRISPR approachCRISPR based approachCRISPR editing screenCRISPR methodCRISPR methodologyCRISPR screenCRISPR techniqueCRISPR technologyCRISPR toolsCRISPR-CAS-9CRISPR-based methodCRISPR-based screenCRISPR-based techniqueCRISPR-based technologyCRISPR-based toolCRISPR/CAS approachCRISPR/Cas methodCRISPR/Cas technologyCRISPR/Cas9CRISPR/Cas9 screenCRISPR/Cas9 technologyCas nuclease technologyCell BodyCell Communication and SignalingCell CountCell CycleCell Division CycleCell NumberCell SignalingCell SurvivalCell ViabilityCellsChildChild YouthChildren (0-21)Clustered Regularly Interspaced Short Palindromic Repeats approachClustered Regularly Interspaced Short Palindromic Repeats methodClustered Regularly Interspaced Short Palindromic Repeats methodologyClustered Regularly Interspaced Short Palindromic Repeats techniqueClustered Regularly Interspaced Short Palindromic Repeats technologyComplexCongenital MegacolonDataDefectDevelopmentDietDifferential Gene ExpressionDiseaseDisorderDoseDysfunctionElementsEmbryoEmbryonicEnhancersEnteralEntericEnteric Nervous SystemEpistasisEpistatic DeviationFailureFunctional RNAFunctional disorderGGFGGF2GI colonizationGender BiasGene ExpressionGene Expression MonitoringGene Expression Pattern AnalysisGene Expression ProfilingGene ModifiedGene TranscriptionGene variantGeneral Transcription Factor GeneGeneral Transcription FactorsGenesGeneticGenetic AlterationGenetic ChangeGenetic DiseasesGenetic EpistasisGenetic TranscriptionGenetic analysesGenetic defectGenetic studyGenomeGenomicsGenotypeGoalsHAP geneHAP proteinHBV-Activated ProteinHGLHRGAHepatitis B Virus Activated ProteinHeregulin GeneHeritabilityHirschsprung DiseaseHumanHuman GeneticsIn Situ HybridizationIn VitroInteraction DeviationIntracellular Communication and SignalingLengthLiteratureLocationMediatingMiceMice MammalsModern ManMolecularMolecular GeneticsMurineMusMutant Strains MiceMutationNEU Differentiation Factor GeneNRG1NRG1 geneNerve CellsNerve UnitNeural CellNeural Crest CellNeurocyteNeuronsNon-CodingNon-Coding RNANon-Polyadenylated RNANon-translated RNANoncoding RNANontranslated RNAOther GeneticsParentsParturitionPathogenicityPathway interactionsPatientsPenetrancePhenotypePhysiopathologyPopulation Attributable RisksPredicting RiskProliferatingQuantitative RTPCRQuantitative Reverse Transcriptase PCRRAR beta 2RAR, Beta FormRAR-EpsilonRARBRARB geneRARbeta2RARβ2RNARNA ExpressionRNA Gene ProductsRNA SeqRNA sequencingRNAseqRetinoic AcidRetinoic Acid Receptor BetaRibonucleic AcidSex BiasShort interfering RNASignal TransductionSignal Transduction SystemsSignalingSmall Interfering RNASourceTestingTherapeuticTimeTissue-Specific Differential Gene ExpressionTissue-Specific Gene ExpressionTissuesTrans Vitamin A AcidTranscript Expression AnalysesTranscript Expression AnalysisTranscriptionTranscription Factor Proto-OncogeneTranscription factor genesTretinoinTretinoinumUntranslated RNAValidationVariantVariationVitamin AVitamin A Acidadulthoodaganglionosisall-trans-Retinoic Acidall-trans-Vitamin A acidallele variantallelic variantanalyze gene expressionattenuateattenuatesattributable fractionbiological signal transductioncell typeclustered regularly interspaced short palindromic repeats screende novo mutationde novo variantdevelopmentaldietsdiscover genesdisease riskdisorder riskentire genomeepistatic relationshipexomeexomesforecasting riskfull genomegastrointestinal tract colonizationgene discoverygene expression analysisgene expression assaygene modificationgene regulatory networkgene x gene interactiongenetic analysisgenetic conditiongenetic disordergenetic epistasesgenetic variantgenetically modifiedgenome mutationgenomic variantglobal gene expressionglobal transcription profilegut colonizationimprovedin situ Hybridization Geneticsin situ Hybridization Staining Methodin vivoinsightintestinal colonizationkidsknock-downknockdownmouse modelmouse mutantmurine modelnervous system developmentneuronalnoncodingnoveloffspringparentpathophysiologypathwaypelvirectal achalasiapredict riskpredict riskspredicted riskpredicted riskspredicting riskspredictive riskpredicts riskpromoterpromotorqRTPCRresponseretinoic acid receptor beta 2retinoic acid receptor β 2risk predictionrisk predictionsscRNA-seqsegregationsexsex related variationsex variablesex variationsex-related variablesiRNAsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingtrans-Retinoic Acidtranscription factortranscriptional profilingtranscriptometranscriptome sequencingtranscriptomic sequencingvalidationsvaries by sexwhole genomeyoungster
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Full Description

ABSTRACT:
Hirschsprung disease (HSCR), or congenital aganglionosis, results from defects in enteric neural crest cell
precursor (ENCC) development in a sex-biased manner. Through human genetic studies we have identified
and/or analyzed 35 genes and loci with multiple pathogenic alleles that explain ~62% of the population
attributable risk, with the greatest effects from mutations within the RET-EDNRB gene regulatory network
(GRN). In this proposal, we use our gene discoveries to conduct genomic, cellular and developmental analyses
in patients and mouse models, and investigate how genetic defects in RET and EDNRB signaling, and other
genetic defects, produce the cellular changes across development that can lead to aganglionosis. We propose
studies to improve HSCR risk prediction from patient genome sequence, advance the mechanistic
understanding of HSCR at the genetic and cellular levels, and identify the rate-limiting genetic steps suitable
for therapeutics. Our goals are to provide a genetic paradigm for uncovering the pathophysiology of a sex-
biased complex multifactorial disorder.

Grant Number: 5R01HD028088-31
NIH Institute/Center: NIH
Principal Investigator: ARAVINDA CHAKRAVARTI

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