grant
Cilia disassembly and dysfunction in malformations of cortical development
NIHUS FederalResearch GrantFY2026ARH12AutoregulationBiologyBourneville DiseaseBourneville PhakomatosisBourneville syndromeBourneville-Brissaud diseaseBourneville-Pringle syndromeBrainBrain Nervous SystemBreslowBreslow ThicknessCRISPR activationCRISPR activatorCRISPR based activationCRISPR editing screenCRISPR gene activationCRISPR screenCRISPR transcription activationCRISPR transcriptional activationCRISPR-Cas-9-mediated gene activationCRISPR-based gene activationCRISPR-based screenCRISPR-dCAS9 ActivatorCRISPR-mediated transcriptional activationCRISPR/CAS9 activationCRISPR/CAS9 gene activationCRISPR/Cas9 screenCRISPR/dCas9 activationCRISPR/dCas9-based transcriptional activationCRISPRaCalciumCell BodyCell Communication and SignalingCell ComponentsCell SignalingCell StructureCellsCellular StructuresCharacteristicsCiliaCollaborationsComplexCortical DysplasiaCortical MalformationCultured CellsDNA mutationDataDefectDevelopmentDiseaseDisorderDrug resistanceDrugsDysfunctionEncephalonEpilepsyEpileptic SeizuresEpilepticsEpiloiaEventExhibitsFK506 Binding Protein 12-Rapamycin Associated Protein 1FKBP12 Rapamycin Complex Associated Protein 1FRAP1FRAP1 geneFRAP2Functional disorderGene variantGenesGeneticGenetic ChangeGenetic HeterogeneityGenetic defectGenetic mutationGenetic studyHamartinHomeostasisHyperactivityImpairmentIntracellular Communication and SignalingMechanistic Target of RapamycinMediatingMediatorMedicationMiceMice MammalsModelingMosaicismMurineMusMutateMutationNerve CellsNerve UnitNervous System DiseasesNervous System DisorderNeural CellNeurocyteNeurodevelopmental DisorderNeurologic DisordersNeurological Development DisorderNeurological DisordersNeuronsOperative ProceduresOperative Surgical ProceduresOverlapping GenesPathogenesisPathogenicityPathologicPathologyPathway interactionsPatientsPharmaceutical PreparationsPhenotypePhysiological HomeostasisPhysiopathologyPopulationPringle diseaseRAFT1RHOARHOA geneRHOH12RegulationReportingRho12RoleSeizure DisorderSeizuresSignal TransductionSignal Transduction SystemsSignalingSomatic MutationSurgicalSurgical InterventionsSurgical ProcedureSynapsesSynapticTSC1TSC1 geneTSC2TSC2 geneTSC4TSC4 GeneTestingTherapeuticTuberinTuberous SclerosisVariantVariationWorkactivating CRISPR technologyadenoma sebaceumallelic variantbasal bodybasebasesbiological signal transductioncerebral sclerosisciliopathyclass developmentclustered regularly interspaced short palindromic repeats screencourse developmentcourse material developmentdevelopmentaldiagnostic tooldrug resistantdrug/agentepilepsiaepileptogenicepiploiafunctional genomicsgenetic etiologygenetic mechanism of diseasegenetic variantgenome mutationgenome scalegenome-widegenomewidegenomic varianthereditary multiple system hamartomatosisimprovedin vivoinsightkinetosomemTORmalformation in cortical developmentmammalian target of rapamycinmosaic diseasesmosaic disordersneural circuitneural circuitryneurinomatosis centralisneurocircuitryneurodevelopmental diseaseneurogeneticsneurological diseaseneuromatosis universalisneuron developmentneuronalneuronal developmentneurospongioblastosis diffusanew drug targetnew drug treatmentsnew druggable targetnew drugsnew pharmacological therapeuticnew pharmacotherapy targetnew therapeutic approachnew therapeutic interventionnew therapeutic strategiesnew therapeutic targetnew therapeuticsnew therapynew therapy approachesnew therapy targetnew treatment approachnew treatment strategynext generation therapeuticsnovelnovel drug targetnovel drug treatmentsnovel druggable targetnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel pharmacotherapy targetnovel therapeutic approachnovel therapeutic interventionnovel therapeutic strategiesnovel therapeutic targetnovel therapeuticsnovel therapynovel therapy approachnovel therapy targetpathophysiologypathwayphacomatosisresistance to Drugresistant to Drugrestorationsclerosis tuberosascreeningscreeningssocial rolesomatic variantspongioblastosis circumscriptasurgerysynapsesynaptic circuitsynaptic circuitrytuberose sclerosistuberous sclerosis 1tuberous sclerosis complex
Description preview
PROJECT SUMMARY
Malformations of cortical development (MCDs) are neurological disorders characterized by altered organization
and function of cortical neurons, often leading to intractable epileptic seizures. Somatic mutations in more than
60 genes have been found in MCDs, with pathogenic variants causing focal impairment of cortical function.…
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