grant
Uncovering mechanisms and developing novel therapeutic strategies for TBCD-related developmental and epileptic encephalopathy
Organization RESEARCH INST NATIONWIDE CHILDREN'S HOSPLocation COLUMBUS, UNITED STATESPosted 1 Feb 2024Deadline 31 Jan 2029
NIHUS FederalResearch GrantFY2026AAV deliveredAAV deliveryAAV-based deliveryAAV-based viral deliveryAAV-mediated deliveryADP-Ribosylation Factor-Like 2ARL2ARL2 geneAdeno-Associated VirusesAdeno-associated-virus-based deliveryAffectAllelesAllelomorphsApoptosisApoptosis PathwayAssayAstrocytosisBioassayBiochemicalBiological AssayBody TissuesBrainBrain Nervous SystemCRISPRCRISPR approachCRISPR based approachCRISPR methodCRISPR methodologyCRISPR techniqueCRISPR technologyCRISPR toolsCRISPR-CAS-9CRISPR-based methodCRISPR-based techniqueCRISPR-based technologyCRISPR-based toolCRISPR/CAS approachCRISPR/Cas methodCRISPR/Cas systemCRISPR/Cas technologyCRISPR/Cas9CRISPR/Cas9 technologyCas nuclease technologyCell BodyCell LineCell divisionCellLineCellsCerebrumCessation of lifeChaperoneClinicalClinical DataClustered Regularly Interspaced Short Palindromic RepeatsClustered 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 technologyComplexCortical MalformationDNA TherapyDNA mutationDataDeathDecreased Muscle ToneDependoparvovirusDependovirusDevelopmentDevelopmental DelayDevelopmental Delay DisordersDiseaseDisease ProgressionDisorderDysfunctionEEGElectroencephalogramElectroencephalographyElectrophysiologyElectrophysiology (science)EncephalonEncephalopathiesEpilepsyEpileptic SeizuresEpilepticsExhibitsFunctional disorderGait AnalysisGene ExpressionGene Transfer ClinicalGeneralized GrowthGenesGenetic ChangeGenetic InterventionGenetic defectGenetic mutationGrowthHistologicHistologicallyHumanHypomyotoniaHypotoniaImmobilizationIn VitroKI miceKO miceKnock-inKnock-in MouseKnock-out MiceKnockout MiceLeadMR ImagingMR TomographyMRIMRIsMagnetic Resonance ImagingMediatingMedical Imaging, Magnetic Resonance / Nuclear Magnetic ResonanceMedulla SpinalisMiceMice MammalsMicro-tubuleMicrocephalyMicrotubulesModelingModern ManMolecularMolecular ChaperonesMurineMusMuscle HypotonyMuscle Tone PoorMuscle hypotoniaMuscular HypotoniaMutationNMR ImagingNMR TomographyNatureNerve CellsNerve DegenerationNerve UnitNeural CellNeural DevelopmentNeurocyteNeurodevelopmental DisorderNeurological Development DisorderNeuron DegenerationNeuronal DifferentiationNeuronsNeurophysiology / ElectrophysiologyNuclear Magnetic Resonance ImagingNull MouseOntologyOrganoidsOutcome MeasurePathogenesisPathogenicityPatientsPb elementPeripheralPhenotypePhysiopathologyPlayProgenitor CellsProgrammed Cell DeathProteinsRegulatory PathwayReportingRoleSeizure DisorderSeriesSpecific Child Development DisordersSpecificitySpinal CordStrains Cell LinesTestingTissue GrowthTissuesTransgenic MiceTranslationsTreatment EfficacyTubulinVariantVariationWeaningZeugmatographyadeno associated virus groupadeno-associated viral vector deliveryadeno-associated virus deliveryadeno-associated virus mediated deliveryadenovirus mediated deliveryattenuationbeta Tubulinbrain cellcell typecerebralclinical phenotypeclinical relevanceclinically relevantcofactorcohortcultured cell linedelivered with AAVdelivery with AAVdetermine efficacydevelopmentaldisease causing variantdisease phenotypedisease-causing alleledisease-causing mutationearly onsetefficacy analysisefficacy assessmentefficacy determinationefficacy evaluationefficacy examinationelectrophysiologicalepilepsiaepileptic encephalopathiesepileptogenicevaluate efficacyexamine efficacyfunctional lossgait examinationgene correctedgene correctiongene repair therapygene replacementgene replacement therapygene therapygene-based therapygenetic therapygenome mutationgenomic correctiongenomic therapyheavy metal Pbheavy metal leadiPSiPSCiPSCsimprovedin vivoin vivo Modelinduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellinsightinterdisciplinary approachintervention efficacyknockinknockin miceloss of functionmeasurable outcomemicrencephalymicroencephalymigrationmolecular phenotypemouse modelmulti-electrode arraysmultidisciplinary approachmultielectrode arraysmurine modelmyelinationneural degenerationneurodegenerationneurodegenerativeneurodevelopmentneurodevelopmental diseaseneurological degenerationneuronalneuronal degenerationneuropathologicneuropathologicalneuropathologynew therapeutic approachnew therapeutic interventionnew therapeutic strategiesnew therapy approachesnew treatment approachnew treatment strategynovelnovel therapeutic approachnovel therapeutic interventionnovel therapeutic strategiesnovel therapy approachontogenyorthopedic freezingoutcome measurementpathogenic allelepathogenic variantpathophysiologyprematureprematurityprogenitor cell proliferationprogenitor proliferationpromoterpromotorscRNA sequencingscRNA-seqsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingsocial rolespasticitystem and progenitor cell proliferationstem cell proliferationstem cellstherapeutic agent developmenttherapeutic developmenttherapeutic efficacytherapy efficacytranslationunclassified variantvariant of uncertain clinical significancevariant of uncertain significancevariant of undetermined significancevariant of unknown significanceventilationα Tubulinβ-Tubulin
Description preview
Project Summary/Abstract
Variants in the tubulin folding cofactor D (TBCD) gene result in a rare early-onset encephalopathy with
neurodevelopmental and neurodegenerative features including developmental regression, epilepsy,
microcephaly, hypotonia, and spasticity which progresses to immobilization, ventilation, and premature death.
TBCD…
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