grant
Finding Missing Genetic Causality of Inherited Retinal Degenerations
Organization MASSACHUSETTS EYE AND EAR INFIRMARYLocation BOSTON, UNITED STATESPosted 30 Sept 2024Deadline 30 Apr 2028
NIHUS FederalResearch GrantFY2025AddressAffectAlgorithmsAlternate SplicingAlternative RNA SplicingAlternative SplicingAssayBase PairingBioassayBiological AssayBiologyBlindnessCancersCardiologyCausalityClinVarClinical TrialsClinical geneticsCodeCoding SystemComplexCopy Number PolymorphismDNA Sequence RearrangementDNA mutationDataDefectDetectionDiagnosticDiagnostic testsDiseaseDisorderEtiologyExonsFamilyFamily PlanningFamily Planning ServicesFunctional RNAGene ExpressionGenesGeneticGenetic ChangeGenetic defectGenetic mutationGenomic medicineGoalsHuman GeneticsMER Tyrosine Kinase ProtooncogeneMERTKMERTK geneMalignant NeoplasmsMalignant TumorMedical GeneticsMendelian diseaseMendelian disorderMendelian genetic disorderModelingMutationNoncoding RNANontranslated RNAOrphan DiseasePathogenicityPatientsPhenotypePre-mRNAPreventative measurePreventive measurePrognosisRNA SplicingRNA, Messenger, PrecursorsRPE65RPE65 proteinRPGRRPGR geneRare DiseasesRare DisorderReportingReproducibilityResearchRetinitis Pigmentosa GTPase RegulatorSingle Base PolymorphismSingle Nucleotide PolymorphismSiteSplicingSurvey InstrumentSurveysTestingUSH2AUSH2A geneUntranslated RNAVariantVariationautosomecausationcell typeclinical careclinical relevanceclinically actionableclinically relevantcohortcopy number variantcopy number variationdevelop softwaredeveloping computer softwaredisease causationdisease causing variantdisease-causing alleledisease-causing mutationexon skippingfallsgene functiongene testinggene-based diagnosticsgene-based testinggenetic diagnosisgenetic diagnosticsgenetic disorder diagnosisgenetic testinggenetic-focused diagnosticgenome medicinegenome mutationgenome sequencinggenomic rearrangementgenomic variationimprovedindelinherited retinal degenerationinsertion/deletioninsertion/deletion mutationlong read seqlong-read sequencinglong-read transcript sequencinglow-frequency mutationmRNA Precursormachine learned algorithmmachine learning algorithmmachine learning based algorithmmalignancymonogenic diseasemonogenic disorderneoplasm/cancernoncodingnovelorphan disorderpathogenic allelepathogenic variantprognosticrare allelerare mutationrare variantsingle nucleotide variantsingle-gene diseasesingle-gene disordersoftware developmentstructural mutationstructural variantstructural variationtargeted sequencingunclassified variantvariant of uncertain clinical significancevariant of uncertain significancevariant of undetermined significancevariant of unknown significancevision lossvisual loss
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Project Summary/Abstract
Understanding the functional consequences of rare variants of unknown significance (VUSs) is a major
challenge in the field of human genetics and it is critical in genetic diagnostic testing in all fields of genomic
medicine, including cancer, cardiology and all rare diseases. It affects the choice of adequate treatments,…
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