grant
Mechanistic dissection of 22q11.2DS in zebrafish
Organization BOSTON CHILDREN'S HOSPITALLocation BOSTON, UNITED STATESPosted 1 Mar 2024Deadline 29 Feb 2028
NIHUS FederalResearch GrantFY20250-11 years old22q1122q11 Chromosomal Microdeletion Syndrome22q11 Deletion Syndrome22q11.2 deletion syndrome22q11.2DS22q11DSATAC sequencingATAC-seqATACseqATRAActive Follow-upAddressAnimal ModelAnimal Models and Related StudiesAnimalsAnteriorArteriesAssay for Transposase-Accessible Chromatin using sequencingAutosomal dominant Opitz G/BBB syndromeBasal Transcription FactorBasal transcription factor genesBiologic ModelsBiological ModelsBrachydanio rerioBranchial arch structureCUT&RUNCardiacCardiac Muscle CellsCardiac MyocytesCardiocyteCardiovascularCardiovascular Body SystemCardiovascular Organ SystemCardiovascular systemCayler cardiofacial syndromeCell BodyCell LineageCell NucleusCellsCephalicChildChild YouthChildhoodChildren (0-21)ChromatinChromosomal microdeletionChromosome 22q11.2 deletion syndromeCleavage Targets and Release Using NucleaseCleavage Under Targets and Release Using NucleaseClinicalCongenital Cardiac DefectsCongenital Heart DefectsCranialDanio rerioData SetDefectDevelopmentDi George syndromeDiGeorge SyndromeDiGeorge anomalyDiGeorge sequenceDissectionEmbryoEmbryonicEpistasisEpistatic DeviationExpression SignatureGene ExpressionGene Expression ProfileGeneral Transcription Factor GeneGeneral Transcription FactorsGenesGeneticGenetic EpistasisGeographyGuide RNAHeadHeart Muscle CellsHeart VascularHeart myocyteHeterogeneityHumanIn Situ HybridizationInteraction DeviationKnock-inLaboratoriesLateralLearningLineage TracingLinkMapsMesodermModel SystemModelingModern ManMolecularMuscleMuscle TissueNucleusPatientsPatternPharangeal ArchPharyngeal ApparatusPharyngeal structurePharynxPhenotypePopulationProgenitor CellsReporterReportingResolutionRetinoic AcidSedlackova syndromeSeriesShprintzen syndromeSomitesSpecific qualifier valueSpecifiedStructureSurfaceSyndromeSystemTestingThroatTimeTrans Vitamin A AcidTranscription Factor Proto-OncogeneTranscription factor genesTretinoinTretinoinumUndifferentiatedVisceral ArchesVitamin A AcidZebra DanioZebra FishZebrafishactive followupall-trans-Retinoic Acidall-trans-Vitamin A acidaortic archassay for transposase accessible chromatin followed by sequencingassay for transposase accessible chromatin seqassay for transposase accessible chromatin sequencingassay for transposase-accessible chromatin with sequencingbiomarker identificationbranchial archcardiomyocytecell lineage analysiscell lineage mappingcell lineage tracingcell lineage trackingcellular lineage mappingcellular lineage trackingcirculatory systemconotruncal anomaly face syndromecraniofacialcraniofaciesdevelopmentaldifferential expressiondifferentially expressedepistatic interactionepistatic relationshipexperimentexperimental researchexperimental studyexperimentsfamilial third and fourth pharyngeal pouch syndromefollow upfollow-upfollowed upfollowupgRNAgene expression patterngene expression signaturegene x gene interactiongenetic epistasesgenetic strainidentification of biomarkersidentification of new biomarkersimaging capabilitiesin situ Hybridization Geneticsin situ Hybridization Staining Methodinsightkidsknockinmarker identificationmicrodeletionmodel of animalmodel organismmortalitymultiomicsmultiple omicsmuscularmutantpanomicspediatricpharyngeal archpharyngeal pouch syndromepreservationprogenitorprogenitor cell fateprogenitor cell fate specificationprogenitor cell poolprogenitor cell populationprogenitor fateprogenitor fate specificationprogenitor poolprogenitor populationprogenitor specificationresolutionsscRNA sequencingscRNA-seqsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingsmall moleculespatial RNA sequencingspatial gene expression analysisspatial gene expression profilingspatial resolved transcriptome sequencingspatial transcriptome analysisspatial transcriptome profilingspatial transcriptome sequencingspatial transcriptomicsspatially resolved transcriptomicsspatio transcriptomicsstem and progenitor cell fatestem and progenitor cell populationstem cell fatestem cell fate specificationstem cell poolstem cell populationstem cell specificationstem cellsthird and fourth pharyngeal pouch syndromethymic and parathyroid agenesis syndrometooltrans-Retinoic Acidtranscription factortranscriptional differencestranscriptional profiletranscriptional signaturevelo-cardio-facial syndromevelocardiofacial syndromevelofacial hypoplasiayoungster
Description preview
PROJECT SUMMARY:
Hemizygous microdeletions encompassing TBX1 cause 22q11.2 deletion syndrome (22q11.2DS), the most
common deletion syndrome in humans. Among a broad spectrum of clinical features that often include
craniofacial dysmorphia, congenital heart defects (CHDs) of the outflow tract (OFT), and aortic arch, which is
derived from embryonic…
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