grant
Identifying molecular mechanisms contributing to disease etiology and the neurological symptoms associated with pediatric DPD deficiency
Organization MAYO CLINIC ROCHESTERLocation ROCHESTER, UNITED STATESPosted 1 Apr 2025Deadline 31 Mar 2028
NIHUS FederalResearch GrantFY202621+ years old3-Aminopropionic Acid5-FU5-Fluracil5FUASDATAC sequencingATAC-seqATACseqAddressAdultAdult HumanAffectAnatomic SitesAnatomic structuresAnatomyAssay for Transposase-Accessible Chromatin using sequencingAutismAutistic DisorderBehaviorBrainBrain Nervous SystemCUT&RUNCase StudyCase-Base StudiesCatabolismCausalityCell Communication and SignalingCell LineCell SignalingCellLineCerebrumCessation of lifeChildhoodChronicCleavage Targets and Release Using NucleaseCleavage Under Targets and Release Using NucleaseClinicalComplexDNA mutationDPYD geneDataDeathDevelopmentDihydropyrimidine DehydrogenaseDihydrothymine Dehydrogenase (NADP)DiseaseDisorderDrug TargetingDrug resistanceDysfunctionEarly Infantile AutismEncephalonEpigeneticEpigenetic ChangeEpigenetic MechanismEpigenetic ProcessEpilepsyEpileptic SeizuresEpilepticsEtiologyExhibitsFatigueFellowshipFluoro UracilFluorouracilFluoruracilFluouracilFunctional disorderFutureGene ExpressionGenesGeneticGenetic ChangeGenetic DiversityGenetic VariationGenetic defectGenetic mutationGenomicsGliaGlial CellsGlutamatesGoalsHereditary Metabolic DisorderHypermyotoniaInborn Errors of MetabolismIndividualInfantile AutismIntellectual disabilityIntellectual functioning disabilityIntellectual limitationIntermediary MetabolismIntracellular Communication and SignalingInvestigationKanner's SyndromeKnowledgeKolliker's reticulumL-GlutamateLack of EnergyLinkLiteratureMeasurementMeasuresMetabolicMetabolic ProcessesMetabolismMethodsMicrocephalyModelingMolecularMotorMotor SkillsMuscle HypertoniaMuscle Tone IncreasedMuscular HypertonicityMutationNerve CellsNerve Impulse TransmissionNerve TransmissionNerve Transmitter SubstancesNerve UnitNervous System PhysiologyNeural CellNeural DevelopmentNeurocyteNeurogliaNeuroglial CellsNeurologicNeurologic ManifestationsNeurologic Signs and SymptomsNeurologic SymptomsNeurologic functionNeurologicalNeurological ManifestationsNeurological Signs and SymptomsNeurological functionNeuronal TransmissionNeuronsNeurophysiology - biologic functionNeurotransmittersNon-neuronal cellNonneuronal cellOnset of illnessOrganoidsOutcomePathway interactionsPatient outcomePatient-Centered OutcomesPatient-Focused OutcomesPatientsPenetrancePhenotypePhysiopathologyPopulationPyrimidinePyrimidinesQOL improvementRNA SeqRNA sequencingRNAseqResearchRoleSeizure DisorderSeizuresSignal PathwaySignal TransductionSignal Transduction SystemsSignalingStaining methodStainsStrains Cell LinesSymptomsSystemSystems BiologyTherapeuticToxic effectToxicitiesVariantVariationadulthoodassay for transposase accessible chromatin followed by sequencingassay for transposase accessible chromatin seqassay for transposase accessible chromatin sequencingassay for transposase-accessible chromatin with sequencingassociated symptomautism spectral disorderautism spectrum disorderautistic spectrum disorderaxon signalingaxon-glial signalingaxonal signalingbiological signal transductioncandidate identificationcase reportcausationcell typecerebralco-morbid symptomco-occuring symptomcomorbid symptomconcurrent symptomcooccuring symptomcultured cell linedesigndesigningdevelopmentaldifferential expressiondifferentially expresseddisease causationdisease onsetdisorder onsetdrug discoverydrug resistantearly onsetearly onset disorderentire genomeepigeneticallyepigenomicsepilepsiaepileptogenicexcitotoxicexcitotoxicityexperimentexperimental researchexperimental studyexperimentsfull genomegene regulatory networkgenome mutationgenome sequencingglia signalingglial signalingglobal gene expressionglobal transcription profileglutamatergichypertoniaiPSiPSCiPSCsimprovedimproved outcomeimprovements in QOLimprovements in quality of lifeinborn metabolism disorderinduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellinhibitory neuroninsightintellectual and developmental disabilitylimited intellectual functioningmanage symptommicrencephalymicroencephalymotor abilitymulti-electrode arraysmultielectrode arraysnerve cementnerve signalingnervous system developmentnervous system functionneuralneural functionneural manifestationneural signalingneurodevelopmentneuronalneuronal signalingneurotransmissionneurotransmitter releasepalliativepathophysiologypathwaypatient oriented outcomespediatricquality of life improvementresistance to Drugresistant to DrugscRNA sequencingscRNA-seqside effectsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle-cell RNA sequencingskill acquisitionskill developmentsocial rolesymptom associationsymptom comorbiditysymptom managementsymptomatologytargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttherapeutic targettherapeutically effectivetranscriptional differencestranscriptometranscriptome sequencingtranscriptomic sequencingwhole genomeβ-Alanine
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PROJECT SUMMARY
Dihydropyrimidine dehydrogenase (DPD) deficiency, caused by mutations within DPYD, has been
studied mostly in the context of 5-fluorouracil (5-FU) toxicity and its role as a pharmacogene. However, a rare
pediatric disorder with severe early onset symptoms, pediatric DPD deficiency, is also linked to genetic
variation within DPYD.…
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