grant
Role of CHAMP1, a neurodevelopmental disorder high risk gene, in human brain development and function
Organization MEDICAL UNIVERSITY OF SOUTH CAROLINALocation CHARLESTON, UNITED STATESPosted 19 Sept 2024Deadline 30 Jun 2029
NIHUS FederalResearch GrantFY2025ASDAffectApicalAutismAutistic DisorderBehaviorBrainBrain Nervous SystemCalciumCell BodyCell DifferentiationCell Differentiation processCell Growth in NumberCell MultiplicationCell ProliferationCellsCellular ProliferationCharacteristicsCoupledDNA mutationDataDecreased Muscle ToneDevelopmentDysfunctionEarly Infantile AutismElectrophysiologyElectrophysiology (science)EncephalonFore-BrainForebrainForebrain DevelopmentFrame Shift MutationFrameshift MutationFunctional disorderGene TranscriptionGenesGenetic ChangeGenetic DiseasesGenetic TranscriptionGenetic defectGenetic mutationGenetic predisposing factorGliaGlial CellsHeterozygoteHumanHypomyotoniaHypotoniaImageImmunohistochemistryImmunohistochemistry Cell/TissueImmunohistochemistry Staining MethodIn VitroInfantile AutismIntellectual disabilityIntellectual functioning disabilityIntellectual limitationKanner's SyndromeKinetochoresKnowledgeKolliker's reticulumLearningLinkage DisequilibriumM PhaseMaintenanceMapsMemory DeficitMemory impairmentMental DepressionMetaphaseMiceMice MammalsMicro-tubuleMicrocephalyMicrotubulesMissense MutationMitosisMitosis StageMitotic MetaphaseModern ManMolecularMorphologyMurineMusMuscle HypotonyMuscle Tone PoorMuscle hypotoniaMuscular HypotoniaMutationNerve CellsNerve UnitNeural CellNeural DevelopmentNeurobiologyNeurocyteNeurodevelopmental DisorderNeurogliaNeuroglial CellsNeurological Development DisorderNeuronal DifferentiationNeuronsNeurophysiology / ElectrophysiologyNon-neuronal cellNonneuronal cellNonsense MutationOrganoidsOrphan DiseasePatientsPhysiopathologyPlayPopulationPrincipal InvestigatorProcessProductionProliferatingPropertyProsencephalonProteinsPublishingRNA ExpressionRadialRadiusRare DiseasesRare DisorderReading Frame Shift MutationRegulationReportingResearchRisk FactorsRisk-associated variantRoleSeriesSyndromeTestingTimeTranscriptionZinc Finger DomainZinc Finger MotifsZinc Fingersautism spectral disorderautism spectrum disorderautistic spectrum disordercell typecellular differentiationconfocal imagingdepressiondevelopmentaldifferential expressiondifferentially expressedelectrophysiologicalepigenomicsexcitatory neuronexperimentexperimental researchexperimental studyexperimentsgenetic conditiongenetic disordergenetic risk factorgenome mutationheterozygosityhiPSChigh resolution imaginghigh riskhuman iPShuman iPSChuman induced pluripotent cellhuman induced pluripotent stem cellshuman inducible pluripotent stem cellshuman inducible stem cellsimagingimaging approachimaging based approachin vitro Modelinduced human pluripotent stem cellsinherited factorinsightintellectual and developmental disabilitylimited intellectual functioningloss of functionloss of function mutationlow-frequency mutationmemory dysfunctionmicrencephalymicroencephalymigrationmissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmouse modelmultiomicsmultiple omicsmurine modelnerve cementneurobiologicalneurodevelopmentneurodevelopmental diseaseneurogenesisneuron developmentneuronalneuronal developmentneuronal excitabilitynew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeutic approachnew therapeutic interventionnew therapeutic strategiesnew therapeuticsnew therapynew therapy approachesnew treatment approachnew treatment strategynext generation therapeuticsnon-sense mutationnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeutic approachnovel therapeutic interventionnovel therapeutic strategiesnovel therapeuticsnovel therapynovel therapy approachorphan disorderpanomicspatch clamppathophysiologyprenatalprogramsprosencephalon developmentrare allelerare mutationrare variantrisk allelerisk generisk genotyperisk locirisk locusrisk variantsegregationsocial roletooltranscriptional differencestranscriptomicstranslational opportunitiestranslational potentialunborn
Description preview
PROJECT SUMMARY
Nonsense or missense mutations of the CHAMP1 gene, which encodes for a zinc-finger protein involved in the
maintenance of kinetochore-microtubule attachment during mitosis and regulation of chromosomal segregation,
causes a neurodevelopmental syndrome characterized by intellectual disability (ID), ASD-like behaviors,
microcephaly,…
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