grant
Expert curation of clinically significant variants in genes for early onset retinal degeneration
Organization UNIVERSITY OF CALIFORNIA, SAN DIEGOLocation LA JOLLA, UNITED STATESPosted 15 Sept 2025Deadline 30 Jun 2028
NIHUS FederalResearch GrantFY20250-11 years oldAcademiaAdvanced DevelopmentAmblyopiaAttentionAuthorizationAuthorization documentationBioinformaticsBlindnessCandidate Disease GeneCandidate GeneCaringCessation of lifeChildChild YouthChildhoodChildren (0-21)ClassificationClinVarClinicalClinical TrialsCollaborationsDNA TherapyDNA mutationDataDeathDepositDepositionDevelopmentDiagnosisDiagnosticDiseaseDisorderEligibilityEligibility DeterminationFDA approvedFundingFunding OpportunitiesFutureGene TargetingGene Transfer ClinicalGene variantGenesGeneticGenetic ChangeGenetic CounselingGenetic InterventionGenetic defectGenetic mutationGoalsGrantGuidelinesHereditaryHereditary DiseaseInborn Genetic DiseasesIndustryInheritedInherited disorderInternationalKnowledgeLeadershipLeber congenital amaurosisLeber's amaurosisLeber's congenital amaurosisMedicalMendelian diseaseMendelian disorderMendelian genetic disorderMethodsMutationNational Institutes of HealthPathogenicityPatient CarePatient Care DeliveryPatientsPermissionPhenotypePhotoreceptor CellPhotoreceptorsPhotosensitive CellPrecision careProtocolProtocol ScreeningProtocols documentationRPE65RPE65 proteinResearchResearch ResourcesResourcesRetinaRetinal DegenerationRetinal DiseasesRetinal DisorderRetinal DystrophyReview CommitteeSpecific qualifier valueSpecifiedStructureSystematicsUnited States National Institutes of HealthVariantVariant Curation Expert PanelVariationVisual ReceptorWorkactionable mutationactionable variantsallelic variantamaurosis congenita of Leberautosomecare for patientscare of patientscaring for patientsclinical careclinical relevanceclinical significanceclinically actionableclinically relevantclinically significantcongenital amaurosis of retinal origindegenerative retina diseasesdevelopmentaldisease causing variantdisease-causing alleledisease-causing mutationearly onsetexperiencegene repair therapygene replacement therapygene testinggene therapygene-based diagnosticsgene-based testinggene-based therapygenetic consultationgenetic diagnosticsgenetic resultsgenetic testinggenetic testing resultsgenetic therapygenetic variantgenetic-focused diagnosticgenome mutationgenome resourcegenomic data resourcegenomic resourcegenomic sequencing resourcegenomic therapygenomic varianthereditary disorderheritable disorderimprovedinborn errorindividualized careindividualized patient careinfancyinfantileinherited diseasesinherited genetic diseaseinherited genetic disorderkidsmembermolecular pathologymonogenic diseasemonogenic disorderpathogenic allelepathogenic variantpediatricpersonalized carepersonalized patient carepilot testpre-clinical studypre-clinical trialpreclinical studypreclinical trialpreventpreventingpublic data basepublic databasepublicly accessible data basepublicly accessible databasepublicly available data basepublicly available databaseresponseretina degenerationretina diseaseretina disorderretinal degenerativeretinal degenerative diseasesretinopathysingle-gene diseasesingle-gene disordertoolunclassified variantvariant of interestvariant of uncertain clinical significancevariant of uncertain significancevariant of undetermined significancevariant of unknown significancevision lossvisual losswork groupworking groupyoungster
Description preview
PROJECT SUMMARY/ABSTRACT
The goal of this proposal is to curate clinically relevant variants in genes associated with the inherited
monogenic diseases autosomal recessive Leber congenital amaurosis (LCA) and early-onset Retinal
Dystrophy (eoRD) that cause lifelong blindness beginning in infancy or childhood. More than 30 genes
associated with…
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