grant

Multimodal Neuroimaging of Gene-Brain Relationships with a Focus on Williams Syndrome and 7q11.23 Duplication Syndrome

Organization NATIONAL INSTITUTE OF MENTAL HEALTHLocation UNITED STATES
NIHUS FederalResearch GrantFY20250-11 years old21+ years old7q11.23ASDAbsence of pain sensationAbsence of sensibility to painAdolescentAdolescent YouthAdultAdult HumanAffectAge at MenarcheAmygdalaAmygdaloid BodyAmygdaloid NucleusAmygdaloid structureAnteriorAnxietyAortaAortic StenosisAortic Valve StenosisAreaAutismAutistic DisorderBehaviorBehavioralBehavioral MechanismsBeuren syndromeBilateralBody TissuesBrainBrain Nervous SystemBrain regionCell BodyCell FunctionCell LineCell PhysiologyCell ProcessCellLineCellsCellular FunctionCellular MorphologyCellular PhysiologyCellular ProcessCentral LobeCerebellumCharacteristicsChildChild YouthChildhoodChildren (0-21)Chromosomal microdeletionChromosomal, Gene, or Protein AbnormalityChromosome 7ClinicalCognitionComplexCopy Number PolymorphismCytogenetic or Molecular Genetic AbnormalityDNADNA SequenceDWI (diffusion weighted imaging)DWI-MRIDataData CollectionData SetDedicationsDeoxyribonucleic AcidDevelopmentDiffusion MRIDiffusion Magnetic Resonance ImagingDiffusion Weighted MRIDiffusion weighted imagingDiffusion-weighted Magnetic Resonance ImagingDiseaseDisorderDoseEarly Infantile AutismElastinElfin Facies SyndromeEmotionalEncephalonEquationExhibitsFaceFanconi Schlesinger syndromeFanconi-Schlesinger syndromeFearFeels no painFiberFrightFunctional MRIFunctional Magnetic Resonance ImagingGWA studyGWASGene AlterationGene Copy NumberGene DosageGene DuplicationGene MutationGeneral PopulationGeneral PublicGeneralized GrowthGenesGeneticGenetic AbnormalityGenetic DeterminismGenetic DiversityGenetic VariationGenomic SegmentGenotypeGoalsGrowthHaploidHaploidyHaplotypesHeterogeneityHypophysisHypophysis CerebriIndividualInfantile AutismInsulaInsula of ReilIsland of ReilJudgmentKanner's SyndromeKnowledgeLIMKLIMK1LIMK1 geneLeadLifeLinkLiteratureMR ImagingMR TomographyMRIMRIsMagnetic Resonance ImagingMeasurementMeasuresMechanisms of Behavior and Behavior ChangeMedical Imaging, Magnetic Resonance / Nuclear Magnetic ResonanceMethodologyMethodsModelingMolecular AbnormalityMultimodal ImagingNMR ImagingNMR TomographyNatureNerve CellsNerve UnitNeural CellNeural DevelopmentNeurobiologyNeurocyteNeuronsNeurophysiology - biologic functionNo sensitivity to painNuclear Magnetic Resonance ImagingPETPET ScanPET imagingPETSCANPETTPain ControlPain TherapyPain managementParticipantPathologyPatternPb elementPersonalityPersonsPhenotypePituitaryPituitary GlandPituitary Nervous SystemPlayPopulation CharacteristicsPositron Emission Tomography Medical ImagingPositron Emission Tomography ScanPositron-Emission TomographyPredispositionProcessPubertyRNA SeqRNA sequencingRNAseqRad.-PETRegression AnalysesRegression AnalysisRegression DiagnosticsRegulationRestRoleRouteSNP arraySNP chipSNP genotypingSamplingSeminalSeriesShapesSiblingsSingle Base PolymorphismSingle Nucleotide PolymorphismSocial BehaviorStatistical RegressionStimulusStrains Cell LinesStructureSubcellular ProcessSurfaceSusceptibilitySyndromeSystemTechniquesTestingTissue GrowthTissuesTranslatingVariantVariationVeinsVisualVisuospatialWilliams Barratt syndromeWilliams Contiguous Gene SyndromeWilliams SyndromeWilliams-Barratt syndromeWilliams-Beuren SyndromeWorkZeugmatographyadulthoodamygdaloid nuclear complexanalgesiaautism spectral disorderautism spectrum disorderautistic spectrum disorderbehavior mechanismbehavior phenotypebehavioral phenotypingboysbrain sizecell morphologyclinical predictorsclinical relevanceclinically relevantcognitive functioncognitive taskcohortconnectomecopy number variantcopy number variationcultured cell linedMRIdata resourcedesigndesigningdevelopmentaldiffusion tensor imagingearly adulthoodelfin-facies hypercalcemia syndromeemerging adultexperienceexperimentexperimental researchexperimental studyexperimentsfMRIfacesfacialgene defectgenetic determinantgenome scalegenome segmentgenome wide associationgenome wide association scangenome wide association studygenome-widegenomewidegenomewide association scangenomewide association studygenomic regiongirlsgray matterheavy metal Pbheavy metal leadhuman modelhypercalcemia-peculiar facies-supravalvular aortic stenosis syndromehypercalcemia/Williams-Beuren syndromeiPSiPSCiPSCsidiopathic hypercalcemia-supravalvular aortic stenosis syndromein vivoindexinginduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellintraparietal sulcusjuvenilejuvenile humankidsmental retardation-typical facies-aortic stenosis syndromemicrodeletionmodel of humanmolecular aberrationsmorphometrymulti-modal imagingmulti-modal neuro-imagingmulti-modality imagingmultimodal neuroimagingmultimodality imagingmutant allelemyelinationneuralneural circuitneural circuitryneural functionneural imagingneural mechanismneuro-imagingneurobiologicalneurocircuitryneurodevelopmentneurogeneticsneuroimagingneurological imagingneuromechanismneuronalneuropsychiatricneuropsychiatric diseaseneuropsychiatric disorderneuropsychiatrynovelontogenypain interventionpain sensitivitypain treatmentpediatricpositron emission tomographic (PET) imagingpositron emission tomographic imagingpositron emitting tomographypubertal timingrare genetic diseaserare genetic disorderresponsesingle nucleotide polymorphism arraysingle nucleotide polymorphism chipsingle nucleotide polymorphism genotypingsingle nucleotide variantsocialsocial cognitionsocial influencesocial rolesociobehaviorsociobehavioralsubstantia griseasuccesssynaptic circuitsynaptic circuitrytranscriptome sequencingtranscriptomic sequencingvisual spatialwhole genome association analysiswhole genome association studyyoungster
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Our group continues to work toward discovery of novel genetic contributions to brain structure, function, and clinically relevant behavior and cognition through a series of ongoing multimodal neuroimaging studies of individuals with copy number variation in the 7q11.23 Williams syndrome [WS] genomic region (hemizygous microdeletion [in WS] or…

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Multimodal Neuroimaging of Gene-Brain Relationships with a Focus on Williams Syndrome and 7q11.23 Duplication Syndrome — | Dev Procure