grant

Hematopoietic stem cell defects in Diamond-Blackfan Anemia

Organization ST. JUDE CHILDREN'S RESEARCH HOSPITALLocation MEMPHIS, UNITED STATESPosted 1 Apr 2024Deadline 28 Feb 2029
NIHUS FederalResearch GrantFY20260-11 years oldAccelerationAddressAffectAllelic LossAllo BMTAllogeneic BMTAllogeneic Bone Marrow TransplantationAnemiaAnimal ModelAnimal Models and Related StudiesAntioncogene Protein p53AssayBioassayBiological AssayBiologyBloodBlood DiseasesBlood Precursor CellBlood Reticuloendothelial SystemBone MarrowBone Marrow GraftingBone Marrow Reticuloendothelial SystemBone Marrow TransplantBone Marrow TransplantationBone marrow failureCD34CD34 geneCITE sequencingCITE-seqCITEseqCRISPR 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 technologyCUT&RUNCas nuclease technologyCell BodyCellsCellular Indexing of Transcriptomes and Epitopes by SequencingCellular Tumor Antigen P53ChildChild YouthChildren (0-21)ChronicCleavage Targets and Release Using NucleaseCleavage Under Targets and Release Using NucleaseClinicalClustered 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 technologyComplexDNA TherapyDNA mutationDataDefectDevelopmentDiamond-Blackfan anemiaDiseaseDisorderDysfunctionEpigeneticEpigenetic ChangeEpigenetic MechanismEpigenetic ProcessErythrocyte TransfusionErythroidErythropoiesisExhibitsExperimental ModelsFailureFoundationsFunctional disorderFundingFutureGene ExpressionGene ProteinsGene TranscriptionGene Transfer ClinicalGenesGenetic ChangeGenetic InterventionGenetic TranscriptionGenetic defectGenetic mutationGlucocorticoidsGoalsHDM2HPCA1Hematologic DiseasesHematological DiseaseHematological DisorderHematopoiesisHematopoietic Cellular Control MechanismsHematopoietic Progenitor CellsHematopoietic stem cellsHeterograftHeterologous TransplantationHeterozygoteHumanImmune PrecipitationImmunoblottingImmunodeficient MouseImmunoprecipitationImpairmentIn VitroInherited bone marrow failureInvestigationLoss of HeterozygosityMDM2MDM2 geneMDMX proteinMaintenanceMapsMarrow TransplantationMdm-2 proteinMediatingModern ManMolecularMutationMyelopoiesisNational Institutes of HealthOncoprotein MDM2Oncoprotein p53P53Pathway interactionsPatientsPhenotypePhosphoprotein P53Phosphoprotein pp53PhysiciansPhysiologyPhysiopathologyPolycombPopulationPopulation HeterogeneityProcessProductionProtein DeficiencyProtein Gene ProductsProtein SubunitsProtein TP53RNA ExpressionRNA SeqRNA sequencingRNAseqRPS19RPS19 geneRed Blood Cell TransfusionRepressionRepressor ProteinsResearchRibo-seqRibonucleoproteinsRibosomal ProteinsRibosomal RNARibosomesScientistSpectroscopySpectrum AnalysesSpectrum AnalysisStructureTP53TP53 geneTRP53TestingTherapeuticTrainingTranscriptionTranslationsTransplantationTumor Protein p53Tumor Protein p53 GeneUbiquitin Ligase Component GeneUbiquitin Ligase GeneUnited States National Institutes of HealthWestern BlottingWestern ImmunoblottingXenograftXenograft procedureXenotransplantationallogeneic bone marrow transplantallogenic bone marrow transplantblood cell formationblood cell progenitorblood disorderblood formationblood progenitorblood stem cellblood-forming stem cellbone marrow allograftbone marrow failure syndromecareercellular indexing of transcriptomes and epitopes by single cell sequencingcofactorcytopeniadeficiency of proteindevelopmentaldiverse populationseffective therapyeffective treatmentelderly patientepigeneticallyerythroid developmentgene repair therapygene therapygene-based therapygenetic therapygenome mutationgenomic therapyglobal gene expressionglobal transcription profilehematopoietic differentiationhematopoietic hierarchyhematopoietic progenitorhematopoietic stem progenitor cellhemopoietic progenitorhemopoietic stem cellheterogeneous populationheterozygosityhuman derived modelhuman derived platformhuman derived systemhuman like modelhuman like platformhuman like systemhuman modelhuman specific alternativehuman specific modelhuman specific platformhuman specific systemhuman-based alternativehuman-based biological modelshuman-based modelhuman-based nonanimal modelshuman-based platformhuman-based researchhuman-based systemhuman-based toolshuman-centered modelhuman-centered platformhuman-centered researchhuman-centered systemhuman-focused researchhuman-relevant alternativehuman-relevant modelhuman-relevant platformhuman-relevant systemimprovedin vivoinfancyinfantileinherited disease of bone marrow failureinsightkidsloss of function mutationmdm-2 oncogene proteinmdm2 proteinmodel of animalmodel of humannew approachesnew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeutic approachnew therapeutic interventionnew therapeutic strategiesnew therapeuticsnew therapynew therapy approachesnew treatment approachnew treatment strategynext generation therapeuticsnovel approachesnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel strategiesnovel strategynovel therapeutic approachnovel therapeutic interventionnovel therapeutic strategiesnovel therapeuticsnovel therapynovel therapy approacholder patientp53 Antigenp53 Genesp53 Tumor Suppressorp53-Binding Protein MDM2pathophysiologypathwaypopulation diversityprogenitorprogenitor biologyprogenitor cell biologyprogenitor cell functionprogenitor cell maintenanceprogenitor functionprogenitor maintenanceprogramsprotein blottingprotein p53rRNArepressor complexribosome footprint profilingribosome profilingribosomopathyscRNA sequencingscRNA-seqself-renewself-renewalsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingstem and progenitor biologystem and progenitor cell functionstem and progenitor functionstem cell biologystem cell functionstem cell maintenancetranscriptometranscriptome sequencingtranscriptomic sequencingtranscriptomicstranslationtranslatometransplanttransplant therapytransplant treatmenttransplantation therapytransplantation treatmentubiquitin ligasexeno-transplantxeno-transplantationyoungster
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Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder caused mainly by heterozygous loss-of-function mutations in 24 out of 83 ribosomal protein genes, with RPS19 being the most commonly affected gene. DBA usually presents with isolated erythroid production failure during infancy, although…

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Hematopoietic stem cell defects in Diamond-Blackfan Anemia — ST. JUDE CHILDREN'S RESEARCH HOSPITAL | UNITED STATES | Apr | Dev Procure