grant
Molecular Basis of Human Visual System Disorders
Organization UNIVERSITY OF CALIFORNIA-IRVINELocation IRVINE, UNITED STATESPosted 1 Jun 2025Deadline 31 May 2029
NIHUS FederalResearch GrantFY2025AddressAffectAnimal ModelAnimal Models and Related StudiesApoptosisApoptosis PathwayAssayAutoregulationBacteriaBioassayBiogenesisBiological AssayCandidate Disease GeneCandidate GeneCell BodyCellsCodeCoding SystemCollectionComputer Software ToolsDNA HelicasesDNA TherapyDNA Unwinding ProteinsDNA mutationDNA unwinding enzymeDefectDiseaseDisorderElementsEnhancersFamilyFamily memberFoundationsFunctional RNAFundingGene Action RegulationGene AlterationGene Expression RegulationGene FamilyGene MutationGene RegulationGene Regulation ProcessGene Transfer ClinicalGenerationsGenesGeneticGenetic ChangeGenetic InterventionGenetic defectGenetic mutationGoalsHereditaryHomeostasisHumanIn VitroInheritedInvestigationKO miceKnock-out MiceKnockout MiceKnowledgeLinkMessenger RNAMethodsModern ManMolecularMolecular DiagnosisMultiomic DataMutant Strains MiceMutationNewly DiagnosedNon-Polyadenylated RNANoncoding RNANontranslated RNANull MouseOrigin of LifePathogenicityPathologyPathway interactionsPatientsPersonsPhenotypePhysiological HomeostasisPigmentary RetinopathyPlayProcessProgrammed Cell DeathProtocolProtocols documentationR-Series Research ProjectsR01 MechanismR01 ProgramRNARNA Gene ProductsRNA HelicaseRNA SplicingRNA metabolismRegulatory ElementResearch GrantsResearch Project GrantsResearch ProjectsResearch ResourcesResourcesRetinaRetinal DefectRetinal DegenerationRetinal DiseasesRetinal DisorderRetinal anomaliesRetinitis PigmentosaRibonucleic AcidRoleSoftware ToolsSplicingTapetoretinal DegenerationTechnologyTestingTherapeuticTranslationsUntranslated RNAValidationVariantVariationVisual SystemWorkcohortdegenerative retina diseasesdisease diagnosticentire genomeexome sequencingexome-seqexperimentexperimental researchexperimental studyexperimentsfeasibility testingfull genomegene defectgene repair therapygene replacement therapygene therapygene-based therapygenetic therapygenome mutationgenome sequencinggenomic therapyhelicasehuman diseaseimprovedin vivoinsightmRNAmembermodel of animalmolecular diagnosticsmouse modelmouse mutantmultiple data sourcesmultiple omic datamurine modelmutantmutant allelemutant mouse modelmutation scanningmutation screeningnew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnoncodingnovelnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapypathwayprobandretina degenerationretina diseaseretina disorderretinal degenerativeretinal degenerative diseasesretinopathyrod and cone dystrophyrod-cone dystrophyscreeningscreeningssegregationsocial rolesoftware toolkittranslationvalidationswhole genome
Description preview
Abstract
The primary objective of this proposal is to enhance the molecular diagnosis rate and deepen our understanding
of the molecular mechanisms underlying Retinitis Pigmentosa (RP). RP, the most prevalent form of retinal
degeneration, affects 1 in 3,000 people worldwide. The genetics and pathways responsible for the disease are
highly…
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