grant
Optic neuropathy in familial dysautonomia: determination of disease mechanisms and functional rescue.
Organization SCHEPENS EYE RESEARCH INSTITUTELocation BOSTON, UNITED STATESPosted 1 Apr 2025Deadline 31 Mar 2030
NIHUS FederalResearch GrantFY20255' Splice SiteAcetyltransferaseAddressAffectBiologic ModelsBiological ModelsBlindnessBody TissuesCell BodyCell DeathCell FunctionCell PhysiologyCell ProcessCell SurvivalCell ViabilityCell modelCellsCellular FunctionCellular PhysiologyCellular ProcessCellular modelClinicClinicalComplexCranial Nerve II DiseasesCranial Nerve II DisorderDNA mutationDataDefectDegenerative Neurologic DisordersDiminished VisionDiseaseDisorderDoppler OCTElectrophysiologyElectrophysiology (science)EvaluationExonsFamilial DysautonomiaFoundationsGenesGeneticGenetic ChangeGenetic defectGenetic mutationGlaucomaHSAN Type IIIHereditaryHereditary Sensory and Autonomic Neuropathy Type IIIHereditary and Autonomic Neuropathy Type IIIHumanInheritedIntervening SequencesIntronsKnock-outKnockoutKnowledgeLifeLinkLow Molecular Weight Nuclear RNALow VisionLoxP-flanked alleleMediatingMethodsMiceMice MammalsModel SystemModelingModern ManMolecularMonitorMurineMusMutationNervous System Degenerative DiseasesNeural Degenerative DiseasesNeural degenerative DisordersNeural-Optical LesionNeurodegenerative DiseasesNeurodegenerative DisordersNeurologicNeurologic Degenerative ConditionsNeurologicalNeurophysiology / ElectrophysiologyNucleotidesOCT TomographyOptic Nerve DiseasesOptic NeuropathyOptical Coherence TomographyOutcomePartial SightPathologyPathway interactionsPatientsPhenotypeProteinsQOLQuality of lifeRNA SplicingRNFLReduced VisionRegulatory PathwayResolutionRetinaRetinal Ganglion CellsRiley-Day SyndromeSafetySecond Cranial Nerve DiseasesSensorySightSmall Molecular Weight RNASmall Nuclear RNASplice Donor SitesSplice-Junction MutationSplice-Site MutationSplicingSubcellular ProcessSubnormal VisionSupplementationTestingTherapeuticTherapeutic InterventionThickThicknessTissuesToxic effectToxicitiesTransgenesTransgenic OrganismsTranslatingTreatment EfficacyVisionVisual impairmentWorkcell typecomparable efficacycomparative efficacycompare effectivenesscompare efficacydebilitating symptomdegenerative diseases of motor and sensory neuronsdegenerative neurological diseasesdesigndesigningefficacy testingelectrophysiologicalexperiencefamilial autonomic nervous dysfunctionfloxedfloxed allelegangliocyteganglion cellgene networkgene regulatory networkgene replacement therapygenetic recessivegenome mutationglaucomatoushuman modeliPSiPSCiPSCsimprovedin vivoinduced pluripotent cellinduced pluripotent stem cellinduced pluripotent stem cells derived from patientsinduced pluripotent stem cells from patientsinducible pluripotent cellinducible pluripotent stem cellintervention efficacyintervention therapymitochondrial dysfunctionmodel of humanmouse modelmurine modelnecrocytosisneurodegenerative illnessnoveloptic nerve disorderoptical Doppler tomographyoptical coherence Doppler tomographypathwaypatient derived human iPSpatient derived human iPSCpatient derived human induced pluripotent stem cellpatient derived iPSpatient derived iPSCpatient derived induced pluripotent cellspatient derived induced pluripotent stem cellspatient-derived pluripotent stem cellspharmacologicpostnatalpotential biological markerpotential biomarkerpreventpreventingrecessive genetic traitrecessive traitrelative effectivenessresolutionsresponseresponse to therapyresponse to treatmentretinal ganglionretinal ganglion cell degenerationretinal nerve fiber layerscRNA sequencingscRNA-seqsecond cranial nerve disordersingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingsnRNAtherapeutic candidatetherapeutic efficacytherapeutic responsetherapeutically effectivetherapy efficacytherapy responsetranscriptomicstransgenetransgenictreatment responsetreatment responsivenessuRNAvision impairmentvision lossvisual functionvisual lossvisually impaired
Description preview
SUMMARY/ABSTRACT
Familial dysautonomia (FD) is a severe neurodegenerative disorder caused by a splice site mutation in intron 20
of the elongator acetyltransferase complex subunit 1 (ELP1). Despite its complex neurological phenotype, FD
patients suffer from progressive blindness that severely affects their quality of life. Patients with FD show a…
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