grant

Optical Genome Mapping As a Novel Diagnostic Approach in Pediatric Brain Tumors

Organization LURIE CHILDREN'S HOSPITAL OF CHICAGOLocation CHICAGO, UNITED STATESPosted 23 Jul 2024Deadline 30 Jun 2029
NIHUS FederalResearch GrantFY20250-11 years old21+ years oldAdultAdult HumanAffectAgeAmerican Medical AssociationAnimal ModelAnimal Models and Related StudiesAssayAutomobile DrivingB-raf-1BRAFBRAF geneBioassayBioinformaticsBiologicalBiological AssayBlindedBrain NeoplasiaBrain NeoplasmsBrain TumorsCancer GenesCancer-Promoting GeneCancersCertificationChildChild YouthChildhood Brain NeoplasmChildhood Brain TumorChildhood NeoplasmChildhood TumorChildren (0-21)Chromosomal, Gene, or Protein AbnormalityClinicalClinical EvaluationClinical TestingClinical TreatmentClinical TrialsCodeCoding SystemComputer softwareCost-Benefit AnalysisCustomCytogenetic or Molecular Genetic AbnormalityDNADNA AlterationDNA Sequence AlterationDNA blottingDataData AnalysesData AnalysisData SetDeoxyribonucleic AcidDetectionDevelopmentDiagnosisDiagnosticDiagnostic testsDiseaseDisorderEvaluationFISH TechnicFISH TechniqueFISH analysisFISH assayFSHDFacioscapulohumeral AtrophyFacioscapulohumeral Muscular DystrophyFacioscapulohumeral Type Progressive Muscular DystrophyFasioscapulohumeral Muscular DystrophyFluorescence In Situ HybridizationFluorescent in Situ HybridizationGenderGene ExpressionGene FusionGene variantGenesGeneticGenetic AbnormalityGenetic AlterationGenomeGenome MappingsGenomic TestingGenomicsGuidelinesHealth Insurance for Aged and Disabled, Title 18Health Insurance for Disabled Title 18Hematologic CancerHematologic MalignanciesHematologic NeoplasmsHematological MalignanciesHematological NeoplasmsHematological TumorHematopoietic CancerHistologicHistologicallyHospitalsLabelLaboratoriesLandouzy Dejerine muscular dystrophyLandouzy-Dejerine DystrophyLengthLiteratureMaintenanceMalignant Hematologic NeoplasmMalignant NeoplasmsMalignant TumorMeasuresMedicareMethodsMolecularMolecular AbnormalityMolecular WeightNon-Polyadenylated RNAOncogenesOncogenesisOpticsOutcomeOutcome StudyPathogenicityPathologyPathway interactionsPatient outcomePatient-Centered OutcomesPatient-Focused OutcomesPatientsPediatric NeoplasmPediatric TumorPediatric cohortPlayProceduresProgression-Free SurvivalsRAFB1RNARNA Gene ProductsRNA SeqRNA SplicingRNA sequencingRNAseqRaceRacesRecommendationReproducibilityResearchRibonucleic AcidRoleRunningSamplingSequence AlterationSeriesSoftwareSomatic MutationSouthern BlottingSpecificitySplicingStratificationTechnologyTestingTherapeuticTherapeutic UsesTimeTitle 18Transforming GenesTranslatingUniversitiesValidationVariantVariationWorkadulthoodagesallelic variantbiologiccancer cell genomecancer genomecancer progressionclinical applicabilityclinical applicationclinical careclinical diagnosticsclinical interventionclinical practiceclinical relevanceclinical significanceclinical testclinical therapyclinically relevantclinically significantcohortcost benefit economicscost benefit effectivenesscost effectivenesscustomsdata interpretationdevelopmentaldiagnostic abilitydiagnostic approachdiagnostic capabilitydiagnostic powerdiagnostic strategydiagnostic utilitydiagnostic valuedrivinggene testinggene-based testinggenetic testinggenetic variantgenome based testinggenome testinggenomic DNA testinggenomic alterationgenomic based testinggenomic clinical testinggenomic profilesgenomic profiling testinggenomic screening testgenomic varianthealth insurance for disabledimprovedinformation modelkidslong read seqlong-read sequencinglong-read transcript sequencingmalignancymedical diagnosticmodel of animalmolecular aberrationsmolecular diagnosticsneoplasm progressionneoplasm/cancerneoplastic progressionnew diagnosticsnext generation diagnosticsnovelnovel diagnosticsopticaloutcome predictionpathwaypatient oriented outcomespediatric brain neoplasmpediatric brain tumorpre-clinicalpreclinicalprediction algorithmprognosticracialracial backgroundracial originresearch clinical testingresearch studyresponse to therapyresponse to treatmentsocial rolesomatic variantsouthern hybridizationstandard of carestructural mutationstructural variantstructural variationtherapeutic agent developmenttherapeutic developmenttherapeutic responsetherapy responsetranscriptome sequencingtranscriptomic sequencingtreatment planningtreatment responsetreatment responsivenesstrial regimentrial treatmenttumortumor diagnosistumor genometumor progressiontumorigenesistumors in childrentumors in the brainv-raf Murine Sarcoma Viral Oncogene Homolog B1validationsyoungster
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ABSTRACT
One of the greatest advances in pediatric brain tumor management has been the incorporation of tumor

molecular findings in the diagnosis, prognostic stratification, and treatment of patients. Because of this, treatment

options and outcomes for patients with specific alterations, including structural variants (SVs) resulting in fusions,…

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