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Elucidating the molecular and cellular mechanisms underlying cone survival in the peripheral retina in mouse models of Retinitis Pigmentosa

Organization MASSACHUSETTS EYE AND EAR INFIRMARYLocation BOSTON, UNITED STATESPosted 1 May 2021Deadline 30 Apr 2026 ⚠️
NIHUS FederalResearch GrantFY2025ATRAAgeAmacrine CellsAntibodiesAntimorphic mutationBlindnessBloodBlood - brain barrier anatomyBlood Reticuloendothelial SystemBlood VesselsBlood-Brain BarrierBlood-Retinal BarrierCNS Nervous SystemCausalityCell BodyCell Communication and SignalingCell SignalingCellsCentral Nervous SystemCessation of lifeChimera ProteinChimeric ProteinsColor VisionsConeCone PhotoreceptorsDNA TherapyDNA mutationDeathDegenerative Neurologic DisordersDiseaseDisease ProgressionDisorderDominant NegativeDominant-Negative MutantDominant-Negative MutationDrugsElectroporationEnvironmentEnzyme GeneEnzymesEtiologyExhibitsEyeEyeballFoundationsFusion ProteinFutureGene DeletionGene TranscriptionGene Transfer ClinicalGenesGenetic ChangeGenetic InterventionGenetic TranscriptionGenetic defectGenetic mutationGenotypeGoalsGrantHemato-Encephalic BarrierHereditaryHeterogeneityHumanInheritedIntracellular Communication and SignalingKO miceKnock-out MiceKnockout MiceLigandsLinkLoxP-flanked alleleMediatingMedicationMentorsMiceMice MammalsModern ManMolecularMolecular TargetMuller gliaMuller's cellMurineMusMutateMutationMüller cellMüller gliaNerve CellsNerve UnitNervous System Degenerative DiseasesNeural CellNeural Degenerative DiseasesNeural degenerative DisordersNeuraxisNeurocyteNeurodegenerative DiseasesNeurodegenerative DisordersNeurologic Degenerative ConditionsNeuronsNull MousePatientsPeripheralPersonsPharmaceutical PreparationsPhasePhenotypePigmentary RetinopathyQOLQuality of lifeRAR alphaRAR-αRARalphaRARαRNA ExpressionRNA SeqRNA sequencingRNAseqResearchRetinaRetinal ConeRetinal DegenerationRetinal DiseasesRetinal DisorderRetinitis PigmentosaRetinoic AcidRhodopsinRodRod PhotoreceptorsSightSignal PathwaySignal TransductionSignal Transduction SystemsSignalingSpecific qualifier valueSpecifiedSupporting CellTamoxifenTapetoretinal DegenerationTechniquesTestingTherapeuticTimeTrans Vitamin A AcidTranscriptionTretinoinTretinoinumVP 16VP16VisionVisual PurpleVitamin A AcidWorkagesall-trans-Retinoic Acidall-trans-Vitamin A acidbiological signal transductionbloodbrain barriercareercareer developmentcausationcell typecellular targetingconditional knock-outconditional knockoutcone celldegenerative diseases of motor and sensory neuronsdegenerative neurological diseasesdegenerative retina diseasesdiscover genesdisease causationdrug/agentelectroporative deliveryexperimentexperimental researchexperimental studyexperimentsfloxedfloxed allelegene deletion mutationgene discoverygene electrotransfergene manipulationgene regulatory networkgene repair therapygene replacement therapygene therapygene-based therapygenetic manipulationgenetic therapygenetically manipulategenetically perturbgenome mutationgenomic therapyhuman diseasein vivoin vivo Modelintravitreal injectionmedical collegemedical schoolsmolecular targeted therapeuticsmolecular targeted therapiesmolecular targeted treatmentmouse modelmurine modelnerve cell deathnerve cell lossneurodegenerative illnessneuron cell deathneuron cell lossneuron deathneuron lossneuronalneuronal cell deathneuronal cell lossneuronal deathneuronal lossnew therapeutic approachnew therapeutic interventionnew therapeutic strategiesnew therapy approachesnew treatment approachnew treatment strategynovelnovel therapeutic approachnovel therapeutic interventionnovel therapeutic strategiesnovel therapy approachoverexpressoverexpressionphotoreceptor degenerationpostnatalpreservationpreventpreventingprogramspromoterpromotorretina degenerationretina diseaseretina disorderretinal degenerativeretinal degenerative diseasesretinal rodsretinoic acid receptor alpharetinoic acid receptor αretinopathyrod and cone dystrophyrod cellrod-cone dystrophyschool of medicinesuccesstrans-Retinoic Acidtranscriptome sequencingtranscriptomic sequencingvascularvision lossvisual functionvisual loss

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Project Summary
Retinitis Pigmentosa (RP) is an inherited retinal disease afflicting 1 in 4,000 people worldwide. The disease
progresses initially by rod photoreceptor degeneration caused by mutations in rod-specific genes, although
different mutations in different genes converge upon the same rod degeneration phenotype in this disease.
However,…

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