grant
Comprehensive Pediatric Phenotyping for Evidence-Based Diagnosis in Genetic Disease
Organization CHILDREN'S HOSP OF PHILADELPHIALocation PHILADELPHIA, UNITED STATESPosted 1 Jun 2023Deadline 31 May 2028
NIHUS FederalResearch GrantFY20250-11 years oldAccess to InformationAddressAdoptedAgeAlgorithmsAmericanBasal Cell Nevus SyndromeBlindedChildChild YouthChildhoodChildren (0-21)ChronologyClinicalClinical Decision Support SystemsClinical EvaluationClinical InformaticsClinical TestingClinical geneticsComputational algorithmConsensusDataDevelopment PlansDiagnosisDiagnostic SpecificityDiagnostic testsDiseaseDisorderEarly DiagnosisElectronic Health RecordElementsFamiliar Malignant NeoplasmFamilyFifth PhacomatosisFoundationsFundingFutureGeneticGenetic DiseasesGenetic PredispositionGenetic Predisposition to DiseaseGenetic SusceptibilityGenetic propensityGoalsGorlin SyndromeGorlin syndrome 2Gorlin-Goltz SyndromeHealthHealth InequityHealth systemHereditary CancerHereditary Malignant NeoplasmHistoryHumanImageIndividualInequalities in HealthInequities in HealthInequityInformaticsInherited PredispositionInherited SusceptibilityInpatientsInterventionInvestigatorsJudgmentKnowledgeLaboratoriesLeadMachine LearningMedicalMedical GeneticsMethodologyModern ManMolecularNational Institutes of HealthNatural Language ProcessingNevoid Basal Cell Carcinoma SyndromeOn-Line SystemsOnline SystemsOrphan DiseaseOut-patientsOutcomeOutpatientsParticipantPatientsPb elementPerformancePhenotypePhysiciansPopulation HeterogeneityPredictive ValueProcessRare DiseasesRare DisorderRecording of previous eventsResearchResearch PersonnelResearchersResolutionRiskSamplingScientistSensitivity and SpecificitySpecificitySurvey InstrumentSurveysSystemTest ResultTestingTherapeutic InterventionTimeTrainingUnited States National Institutes of HealthValidationWorkage associatedage correlatedage dependentage linkedage relatedage specificagesassess effectivenesscareercareer developmentclinical decision supportclinical diagnosticsclinical testcohortcomputer algorithmdetermine effectivenessdiagnostic approachdiagnostic criteriadiagnostic strategydisadvantaged backgrounddisease diagnosisdiverse populationsearly detectioneffectiveness assessmenteffectiveness evaluationelectronic health care recordelectronic health medical recordelectronic health plan recordelectronic health registryelectronic medical health recordempowermentevaluate effectivenessevidence baseexamine effectivenessexperiencefamilial cancergene testinggene-based testinggenetic conditiongenetic diagnosisgenetic disordergenetic disorder diagnosisgenetic etiologygenetic mechanism of diseasegenetic testinggenetic vulnerabilitygenetically predisposedhealth inequalitiesheavy metal Pbheavy metal leadhereditary cutaneomandibular polyoncosisheterogeneous populationhistorieshuman centered designimagingimprovedinsightintervention therapyjaw cysts-basal cell tumors-skeletal anomalies syndromekidsmachine based learningmachine learned algorithmmachine learning algorithmmachine learning based algorithmmachine learning based frameworkmachine learning frameworkmachine statistical learningmarginalized backgroundmarginalized groupmarginalized individualmarginalized peoplemarginalized populationmedical diagnosticmembermolecular targeted therapeuticsmolecular targeted therapiesmolecular targeted treatmentmultiple basal-cell carcinoma syndrome multiple basal-cell nevus syndromemultiple hereditary cutaneomandibular polyoncosismultiple nevoid basal-cell carcinoma syndromemultiple nevoid basal-cell epithelioma-jaw cysts-bifid rib syndromenatural language understandingnevoid basal-cell epithelioma-jaw cysts-bifid rib syndromenew diagnosticsnext generation diagnosticsnovelnovel diagnosticsodontogenic keratocytosis-skeletal anomalies syndromeonline computerorphan disorderoutreach to informationpediatricpopulation diversityprognosticationprogramsrare genetic diseaserare genetic disorderreproductiveresearch clinical testingresolutionsskillsstatistical and machine learningtargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttoolunclassified variantusabilityvalidationsvariant of uncertain clinical significancevariant of uncertain significancevariant of undetermined significancevariant of unknown significanceweb basedyoungster
Description preview
To facilitate the diagnosis of among 7000 rare genetic diseases, clinicians have developed diagnostic
criteria that enumerate different elements that define disease. These include medical problems, physical exam
findings, laboratory test results, and imaging findings. However, most clinical diagnostic criteria have unknown
predictive value.…
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