grant

Understanding ABCA4 Variants of Unknown Significance Through Computational and Functional Approaches

Organization UNIVERSITY OF DELAWARELocation Newark, UNITED STATESPosted 1 Jun 2024Deadline 31 Mar 2029
NIHUS FederalResearch GrantFY2025220kDa rod outer segment rim protein3-D3-Dimensional3DABCA4 proteinABCR proteinATP phosphohydrolaseATPaseAdenosine TriphosphataseAffectAmericanAwarenessBenchmarkingBenignBest Practice AnalysisBiochemicalBiological FunctionBiological ProcessBiologyBiomedical ResearchBiometricsBiometryBiostatisticsBlindnessClassificationClinVarClinicalClinical TrialsClinical geneticsCommunicationCommunitiesComputational BiologyDNA mutationDataData AnalysesData AnalysisData SetDevelopmentDiminished VisionDiseaseDisorderDoctor of PhilosophyDysfunctionFamilial juvenile macular degeneration syndromeFosteringFunctional disorderFutureGene variantGenesGeneticGenetic ChangeGenetic defectGenetic mutationGenotypeGoalsHealthHereditaryIn VitroIndividualInformaticsInheritedInterdisciplinary ResearchInterdisciplinary StudyInvestigatorsJointsJuvenile onset macular degenerationKnowledgeLaboratoriesLifeLiteratureLow VisionMediatingMedical GeneticsMissense MutationModelingMolecularMultidisciplinary CollaborationMultidisciplinary ResearchMutationOuter pigmented layer of retinaPartial SightPathogenicityPatient riskPatientsPersonsPh.D.PhDPhenotypePhotoreceptor CellPhotoreceptorsPhotosensitive CellPhysiopathologyPigment cell layer of retinaPigmented layer of retinaPredicting RiskPreventative interventionProcessPrognosisProtein BiochemistryProtein/Amino Acid BiochemistryProteinsPublic HealthR-Series Research ProjectsR01 MechanismR01 ProgramROSRPRecombinantsRecyclingReduced VisionResearchResearch GrantsResearch InfrastructureResearch PersonnelResearch Project GrantsResearch ProjectsResearch ResourcesResearch TrainingResearchersResourcesRetinal DegenerationRetinal DiseasesRetinal DisorderRetinal Pigment EpitheliumRetinal pigment epithelial cellsRewardsRiskSTGD3STGD3 diseaseSamplingScienceSeverity of illnessSpeedStargardt diseaseStargardt macular dystrophyStargardt syndromeStargardt's diseaseStargardt-3Stargardt-3 macular dystrophyStargardt-like macular dystrophyStructureStructure of retinal pigment epitheliumStudentsSubnormal VisionSystemSystematicsTestingTrainingUncertaintyVariantVariationVirus-like particleVision researchVisual ReceptorVisual impairmentWorkaged groupaged groupsaged individualaged individualsaged peopleaged personaged personsaged populationaged populationsaging populationallelic variantannotation systemannotation frameworkannotation toolbenchmarkbio-imagingbioimagingcareerclinical significanceclinically significantcommunity engagementcommunity partnerscommunity-based partnerscomputer biologycone-rod dystrophyconferenceconventiondata interpretationdata to traindataset to traindegenerative retina diseasesdevelopmentaldisease severitydiversity, equity, and inclusivenessdoubtengagement with communitiesequity, diversity, and inclusionforecasting riskfundus flavimaculatusgene testinggene-based testinggenetic associationgenetic testinggenetic variantgenome mutationgenomic variantin silicoinherited retinal degenerationinterestintervention for preventionmachine learning based pipelinemachine learning pipelinemedical collegemedical schoolsmissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmolecular pathologynew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapynovel viruspathophysiologypopulation agingprecision medicineprecision-based medicinepredict riskpredict riskspredicted riskpredicted riskspredicting riskspredictive riskpredicts riskprevention interventionpreventional intervention strategypreventive interventionprogramsprospectiveprotein functionprotein structureprotein structuresproteins structurepublic data basepublic databasepublicly accessible data basepublicly accessible databasepublicly available data basepublicly available databaseretina degenerationretina diseaseretina disorderretinal degenerativeretinal degenerative diseasesretinal stimulationretinopathyrisk predictionrisk predictionsschool of medicinesummitsymposiasymposiumtargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmentthree dimensionaltooltraining datatraining opportunityunclassified variantvariant of uncertain clinical significancevariant of uncertain significancevariant of undetermined significancevariant of unknown significancevirus-like nanoparticlesviruslike particlevision impairmentvision lossvisual cyclevisual lossvisually impaired
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ABSTRACT
Variants in the ABCA4 gene are a fundamental cause of several inherited retinal degenerations (IRDs),

including Stargardt macular dystrophy, fundus flavimaculatus, and cone-rod dystrophy; these three ABCA4-

driven diseases cause blindness in 1.4 million people worldwide. As a result, genetic testing of ABCA4 is

increasingly common in…

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Understanding ABCA4 Variants of Unknown Significance Through Computational and Functional Approaches — UNIVERSITY OF DEL | Dev Procure