grant
The Genetics of Uveal Coloboma
Organization NATIONAL EYE INSTITUTELocation UNITED STATES
NIHUS FederalResearch GrantFY20250-11 years old1st trimesterAffectAllelesAllelomorphsAnophthalmiaAnophthalmosBioinformaticsBirth DefectsBrachydanio rerioCDHF7CDHR8CRISPR approachCRISPR based approachCRISPR editing screenCRISPR methodCRISPR methodologyCRISPR screenCRISPR techniqueCRISPR technologyCRISPR toolsCRISPR-CAS-9CRISPR-based methodCRISPR-based screenCRISPR-based techniqueCRISPR-based technologyCRISPR-based toolCRISPR/CAS approachCRISPR/Cas methodCRISPR/Cas technologyCRISPR/Cas9CRISPR/Cas9 screenCRISPR/Cas9 technologyCandidate Disease GeneCandidate GeneCas nuclease technologyCell Culture TechniquesChildChild YouthChildren (0-21)Chromosome 13ClinicalClinical DataClustered Regularly Interspaced Short Palindromic Repeats approachClustered Regularly Interspaced Short Palindromic Repeats methodClustered Regularly Interspaced Short Palindromic Repeats methodologyClustered Regularly Interspaced Short Palindromic Repeats techniqueClustered Regularly Interspaced Short Palindromic Repeats technologyColobomaCongenital AbnormalityCongenital Anatomical AbnormalityCongenital DefectsCongenital DeformityCongenital MalformationDNA Sequence RearrangementDNA mutationDanio rerioDataData AnalysesData AnalysisDefectDevelopmentDevelopmental GeneDevelopmental ProcessDrosophila FAT Tumor Suppressor HomologEarly Placental PhaseEmbryologyEnrollmentEyeEye DevelopmentEye ExamEye ExaminationEyeballFAT atypical cadherin 1FAT geneFAT1FailureFamilyFamily Medical HistoryFamily Medical History EpidemiologyFamily history ofFirst Pregnancy TrimesterFirst TrimesterFundingGene ExpressionGenesGeneticGenetic ChangeGenetic CounselingGenetic defectGenetic mutationGenomicsGenotypeGestationGoalsHabitsHealthHereditaryHeterozygoteHumanIRBIRBsIn VitroIndividualInheritedInstitutional Review BoardsIrisJunk DNAKidneyKidney Urinary SystemKnowledgeLaboratory StudyLife StyleLifestyleME5ManuscriptsMediatingMethodsMiceMice MammalsMicrophthalmosModelingModern ManMolecularMolecular Diagnostic TestingMothersMurineMusMutationNational Institutes of HealthOpticsParentsParticipantPathway interactionsPatient CarePatient Care DeliveryPatientsPhenotypePhonePregnancyPreventionProtocolProtocols documentationPublishingQuestionnairesRNA SeqRNA sequencingRNAseqRegistriesReportingResearchRetinaRoleSignal PathwaySiteSurfaceSyndromeTelephoneTest ResultTexasTransgenesTransgenic OrganismsUnited States National Institutes of HealthVEGFVEGFsVariantVariationVascular Endothelial Growth FactorsVertebraeVertebralWorkWritingZebra DanioZebra FishZebrafishcandidate identificationcare for patientscare of patientscaring for patientscell culturecell culturesclinical careclustered regularly interspaced short palindromic repeats screencohortdata interpretationdevelopmentaldosageenrollentire genomeexomeexome sequencingexome-seqexperimentexperimental researchexperimental studyexperimentseye morphogenesisfull genomegene desertgenetic consultationgenetic diagnosisgenetic disorder diagnosisgenetic epidemiologic studygenetic epidemiologygenetic resultsgenetic testing resultsgenome editinggenome mutationgenome sequencinggenomic editinggenomic rearrangementheterozygosityhuman diseasein vivointegration sitekidslong read seqlong-read sequencinglong-read transcript sequencingmalformationmicrophthalmiamolecular diagnostic assaysmouse modelmurine modelmutantnanophthalmosnovelocular developmentophthalmic examinationopticalparentpathwaypopulation basedrecruitrenalscreeningscreeningssocial rolespine bone structuretranscriptome sequencingtranscriptomic sequencingtransgenetransgenicwhole genomeyoungster
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1. Clinical and Genomic Studies
Recruitment of coloboma patients in the Genetics of Uveal Coloboma protocol (13-EI-0049) and the Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions protocol (14-EI-0064) continues. As of August 2025, we had enrolled approximately 403 participants (153 affected or…
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