grant
Mitochondrial mechanisms underlying neural stem and progenitor cell proliferation deficits in 22q11.2 deletion syndrome
Organization UNIVERSITY OF PENNSYLVANIALocation PHILADELPHIA, UNITED STATESPosted 1 Mar 2024Deadline 28 Feb 2029
NIHUS FederalResearch GrantFY202622q11 Chromosomal Microdeletion Syndrome22q11 Deletion Syndrome22q11.222q11.2 deletion syndrome22q11.2DS22q11DSASDAdvisory CommitteesAffectAutismAutistic DisorderAutosomal dominant Opitz G/BBB syndromeBehaviorBehavioralBrachydanio rerioBrainBrain Nervous SystemCRISPR approachCRISPR based approachCRISPR methodCRISPR methodologyCRISPR techniqueCRISPR technologyCRISPR toolsCRISPR-CAS-9CRISPR-based methodCRISPR-based techniqueCRISPR-based technologyCRISPR-based toolCRISPR/CAS approachCRISPR/Cas methodCRISPR/Cas technologyCRISPR/Cas9CRISPR/Cas9 technologyCas nuclease technologyCayler cardiofacial syndromeCell BodyCell Communication and SignalingCell CycleCell Cycle ControlCell Cycle ProgressionCell Cycle RegulationCell Division CycleCell LineCell SignalingCellLineCellsChromosomal microdeletionChromosome 22Chromosome 22q11.2 deletion syndromeChromosomesClustered 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 technologyCodeCoding SystemCommunitiesComplementComplement ProteinsDanio rerioDataDefectDevelopmentDi George syndromeDiGeorge SyndromeDiGeorge anomalyDiGeorge sequenceDysfunctionEarly Infantile AutismEncephalonFoundationsFunctional disorderGene DeletionGene TranscriptionGenesGeneticGenetic TranscriptionGoalsHeterozygoteHomoImageImmunohistochemistryImmunohistochemistry Cell/TissueImmunohistochemistry Staining MethodIndividualInfantile AutismIntellectual disabilityIntellectual functioning disabilityIntellectual limitationIntracellular Communication and SignalingKanner's SyndromeLeadLinkLive BirthMentorshipMicrocephalyMitochondriaMitochondrial ProteinsModelingMonitorMutateNGS MethodNGS systemNINDSNational Institute of Neurological Diseases and StrokeNational Institute of Neurological Disorders and StrokeNerve CellsNerve UnitNeural CellNeural DevelopmentNeural Stem CellNeurocyteNeurodevelopmental DisorderNeurological Development DisorderNeuronsNeurosphereOpticsOrganoidsOrthologOrthologous GeneOxidation-ReductionPathogenesisPathologicPathway interactionsPatientsPb elementPennsylvaniaPhenotypePhysiciansPhysiopathologyPlayPopulationPositionPositioning AttributeProcessProliferatingProliferation MarkerProteinsPsychiatristRNA ExpressionRedoxRegulationReporter GenesReportingResearchResearch ResourcesResolutionResourcesRoleRunningScientistSedlackova syndromeSeriesShprintzen syndromeSignal TransductionSignal Transduction SystemsSignalingStrains Cell LinesStrategic PlanningStructureStudy modelsSyndromeSystemTask ForcesTestingTherapeuticTherapeutic InterventionTrainingTranscriptionTransgenic OrganismsUniversitiesWorkZebra DanioZebra FishZebrafishadvisory teamautism spectral disorderautism spectrum disorderautistic spectrum disorderbehavior phenotypebehavioral phenotypingbiological signal transductionbrain sizebrain volumecareercell typecomplementationconotruncal anomaly face syndromecultured cell linedesigndesigningdevelopmentalexperimentexperimental researchexperimental studyexperimentsfamilial third and fourth pharyngeal pouch syndromegene complementationgene deletion mutationgenome editinggenomic editingheavy metal Pbheavy metal leadheterozygosityhiPSChuman iPShuman iPSChuman induced pluripotent cellhuman induced pluripotent stem cellshuman inducible pluripotent stem cellshuman inducible stem cellshuman modeliPSiPSCiPSCsimagingimaging in vivoin vivoin vivo imaginginduced human pluripotent stem cellsinduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellinnovateinnovationinnovativeinsightintellectual and developmental disabilityintervention therapylimited intellectual functioningmicrencephalymicrodeletionmicroencephalymitochondrialmitochondrial dysfunctionmodel of humanmouse modelmultipotencymultipotentmurine modelmutantnerve stem cellneural precursorneural precursor cellneural progenitorneural progenitor cellsneural stem and progenitor cellsneurodevelopmentneurodevelopmental diseaseneurogenesisneurogenic progenitorsneurogenic stem cellneuron progenitorsneuronalneuronal progenitorneuronal progenitor cellsneuronal stem cellsneuroprogenitornext gen sequencingnext generation sequencingnextgen sequencingopticaloxidation reduction reactionpathophysiologypathwaypharyngeal pouch syndromepostmitoticprogenitorprogenitor and neural stem cellsprogenitor cell modelprogenitor cell poolprogenitor cell populationprogenitor cell proliferationprogenitor modelprogenitor poolprogenitor populationprogenitor proliferationprogramsproliferation capabilityproliferation capacityproliferation potentialproliferative capabilityproliferative capacityproliferative potentialresolutionsscRNA sequencingscRNA-seqscreeningscreeningssingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingsmall moleculesocial rolestem and progenitor cell modelstem and progenitor cell populationstem and progenitor cell proliferationstem cell based modelstem cell derived modelstem cell modelstem cell poolstem cell populationstem cell proliferationthird and fourth pharyngeal pouch syndromethymic and parathyroid agenesis syndrometransgenicvelo-cardio-facial syndromevelocardiofacial syndromevelofacial hypoplasia
Description preview
PROJECT SUMMARY/ABSTRACT
Deletion of a region of Chromosome 22q11.2 (22qDS) encoding over 40 protein-coding genes is the most
common microdeletion syndrome (~1/2000 live births) and predisposes to multiple neurodevelopmental
disorders (NDDs). Individuals with 22qDS display microcephaly and 22qDS models suggest deficits in neural
stem and…
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