grant

Neurodevelopment and Psychosis in the 22q11.2 Copy Number Variants

Organization UNIVERSITY OF CALIFORNIA LOS ANGELESLocation LOS ANGELES, UNITED STATESPosted 14 Dec 2009Deadline 30 Apr 2028
NIHUS FederalResearch GrantFY202612-20 years old22q11 Chromosomal Microdeletion Syndrome22q11 Deletion Syndrome22q11.222q11.2 deletion syndrome22q11.2DS22q11DSAccelerationAdolescenceAdolescentAdolescent YouthAgeAreaAutomobile DrivingAutosomal dominant Opitz G/BBB syndromeBehaviorBilateralBiologicalBiological MarkersBirth DefectsBrainBrain Nervous SystemCayler cardiofacial syndromeCell BodyCell CycleCell Division CycleCell NucleusCellsChromosomal DeletionChromosomal microdeletionChromosome 22q11.2 deletion syndromeChromosome DeletionChromosomesClinicalCognitionCognitive DisturbanceCognitive ImpairmentCognitive ManifestationsCognitive SymptomsCognitive declineCognitive function abnormalComplexCongenital AbnormalityCongenital Anatomical AbnormalityCongenital DefectsCongenital DeformityCongenital MalformationCopy Number PolymorphismCouplingDNA mutationDataDevelopmentDi George syndromeDiGeorge SyndromeDiGeorge anomalyDiGeorge sequenceDiseaseDisorderDisturbance in cognitionDysfunctionEEGElectroencephalogramElectroencephalographyEncephalonEspanolEventEvolutionFunctional ImagingFunctional MRIFunctional Magnetic Resonance ImagingFunctional disorderFundingGene Copy NumberGene DosageGene ExpressionGeneral PopulationGeneral PublicGeneralized GrowthGenerationsGenesGeneticGenetic ChangeGenetic RiskGenetic defectGenetic mutationGenetic predisposing factorGenomic SegmentGenomicsGoalsGrowthHeterogeneityHistologyImpaired cognitionImpoverishedIndividualLanguageLeannessLinkLong-term prospective studiesMethodologyMethodsModelingMutationNerve CellsNerve UnitNeural CellNeural DevelopmentNeuranatomiesNeuranatomyNeuroanatomiesNeuroanatomyNeurocyteNeuronsNucleusOnset of illnessOutcomeParietalPartial MonosomyPathogenesisPatientsPatternPhenotypePhysiologic ImagingPhysiopathologyPovertyPre-Clinical ModelPreclinical ModelsProcessProliferatingProspective StudiesPsychosesPsychotic DisordersRestRiskSchizophreniaSchizophrenic DisordersSedlackova syndromeShprintzen syndromeSleepSleep disturbancesSpanishStructureSurfaceSymptomsTestingThalamic structureThalamusThinnessTissue GrowthWorkYouthYouth 10-21aberrant sleepadolescence (12-20)agesawakebio-markersbiologicbiologic markerbiomarkerbrain abnormalitiesclinical high risk for psychosisclinical phenotypecognitive developmentcognitive dysfunctioncognitive losscohortconotruncal anomaly face syndromecopy number variantcopy number variationdementia praecoxdesigndesigningdevelopmentaldisease onsetdisease riskdisorder onsetdisorder riskdisrupted sleepdisturbed sleepdrivingearly adulthoodearly biomarkersearly detection biomarkersearly detection markersemerging adultethnic diversityethnically diversefMRIfamilial third and fourth pharyngeal pouch syndromegene conservationgenetic etiologygenetic mechanism of diseasegenetic risk factorgenome mutationgenome segmentgenomic regionhigh riskimage-based methodimaging methodimaging modalityimpaired sleepinherited factorinvestigate prospectiveirregular sleepjuvenilejuvenile humanlongitudinal designlongitudinal experimental designlongitudinal research designlongitudinal study designlongitudinal, prospective studymicrodeletionneuralneural circuitneural circuitryneurobehavioralneurocircuitryneurodevelopmentneuronalneuropsychiatric diseaseneuropsychiatric disordernovelontogenypathophysiologypharyngeal pouch syndromephysiological imagingprospectiveprospective investigationprospective researchprospective research studyprospective surveypsychosis riskpsychoticpsychotic illnesspsychotic symptomsschizophrenicsleep disruptionsleep dysregulationsleep physiologysleep spindlesleep/wake disruptionsleep/wake disturbancestructural imagingstudy prospectivesurvey prospectivesymptomatologysynaptic circuitsynaptic circuitrythalamicthird and fourth pharyngeal pouch syndromethymic and parathyroid agenesis syndromevelo-cardio-facial syndromevelocardiofacial syndromevelofacial hypoplasiavirtualyouth age
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PROJECT SUMMARY/ABSTRACT
The remarkable heterogeneity of developmental neuropsychiatric disorders has been a major barrier for

understanding disease mechanisms. Taking a ‘genetics first’ approach (i.e., ascertaining patients based on a

known, homogeneous genetic etiology) may allow us to overcome the barriers posed by this complexity. Notably,

a…

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