grant

Circuit pathophysiology, phenotypic heterogeneity and translational electrophysiological biomarkers in mouse models of FXS

Organization CINCINNATI CHILDRENS HOSP MED CTRLocation CINCINNATI, UNITED STATESPosted 18 Sept 2025Deadline 31 Aug 2030
NIHUS FederalResearch GrantFY202521+ years old3-ethyl-3-methyl-2,5-pyrrolidinedioneAdultAdult HumanAdult femalesAdult womenAgeAuditoryBehavioralBiological MarkersBlood SampleBlood specimenBrainBrain Nervous SystemClinicalCognitiveCortical SynchronizationDataDevelopmentDiestrusDiseaseDisorderDrugsDysfunctionEEGElectroencephalogramElectroencephalographyElectrophysiologyElectrophysiology (science)EncephalonEndocrine Gland SecretionEscalante syndromeEstrous CycleEstrusEthosuccimidEthosuximideEthylmethylsuccimideFMR-1 ProteinFMR1 ProteinFMR1 geneFMRPFMRP proteinFRAXAFemaleFemales in adulthoodFragile XFragile X Mental Retardation 1 GeneFragile X Mental Retardation ProteinFragile X SyndromeFunctional disorderGeneticGlutamatesHeterogeneityHeterozygoteHormonesHumanImpairmentIn VitroIndividualInvestigatorsL-GlutamateMartin-Bell SyndromeMartin-Bell-Renpenning syndromeMeasurementMeasuresMedicationMemantinMemantineMiceMice MammalsModelingModern ManMolecularMurineMusN-Methyl-D-Aspartate ReceptorsN-Methylaspartate ReceptorsNMDA Receptor-Ionophore ComplexNMDA ReceptorsNational Institutes of HealthNeurodevelopmental DisorderNeurological Development DisorderNeurophysiology / ElectrophysiologyOutcomePatientsPharmaceutical PreparationsPhasePhenotypePhysiologyPhysiopathologyPreparationProestrusReceptor ProteinRenpenning syndrome 2ResearchResearch PersonnelResearchersRestSensorySensory ProcessSliceSynapsesSynapticTechnologyTestingTherapeutic HormoneTimeTranslatingTreatment EfficacyUnited States National Institutes of HealthWild Type MouseWomen in adulthoodWorkX-linked mental deficiency-megalotestes syndromeX-linked mental retardation with fragile X syndromeX-linked mental retardation-fragile site 1 syndromeadulthoodagesanalysis pipelineantagonismantagonistauditory stimulusautism-fragile X (AFRAX) syndromeawakebio-markersbiologic markerbiomarkerbiomarker validationcell typeclinical relevanceclinically relevantcognitive processcomparing females and malescomparing women and mendensitydevelop therapydevelopmentaldrug discoverydrug/agentelectrophysiologicalestrousfemales compared to malesfemales compared with malesfemales versus malesfemales vs. malesfra(X) syndromefra(X)(28) syndromefra(X)(q27) syndromefra(X)(q27-28) syndromefragile X FMR1 proteinfragile X mental retardation 1fragile X mental retardation-1 proteinfragile X-mental retardation syndromefragile Xq syndromefragile site mental retardation 1glutamatergicheterozygosityintervention developmentintervention efficacymacro-orchidism-marker X (MOMX) syndromemacro-orchidism-marker X syndromemalemar(X) syndromemarker X syndromemarker validationmental retardation-macroorchidism syndromemouse modelmulti-electrode arraysmultielectrode arraysmurine modelneural circuitneural circuitryneurocircuitryneurodevelopmental diseaseneurophysiologicalneurophysiologynew markernew therapeutic approachnew therapeutic interventionnew therapeutic strategiesnew therapy approachesnew treatment approachnew treatment strategynovel biomarkernovel markernovel therapeutic approachnovel therapeutic interventionnovel therapeutic strategiesnovel therapy approachpathophysiologypreparationsreceptorresponsesexsoundsynapsesynaptic circuitsynaptic circuitrytargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttherapeutic efficacytherapy developmenttherapy efficacytranslational medicinetreatment developmentwildtype mousewomen compared to menwomen compared with menwomen versus menwomen vs. men
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Project 2: Circuit pathophysiology, phenotypic heterogeneity and translational
electrophysiological biomarkers in mouse models of FXS.

Translational biomarkers for Fragile X Syndrome (FXS) were suggested from the findings of our research

team that sensory circuits are hyperexcitable in both FXS patients and Fmr1 KO mice, as measured with…

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