grant
Understanding the Role of NAD Deficiency in a Mendelian Disorder of Tryptophan Metabolism
Organization BAYLOR COLLEGE OF MEDICINELocation HOUSTON, UNITED STATESPosted 6 Jan 2025Deadline 5 Jan 2028
NIHUS FederalResearch GrantFY20263-Pyridinecarboxylic AcidASDAffectAllelic LossAnalAnusAutismAutistic DisorderBirth DefectsBirth HistoryBlood PlasmaBypassCardiacCollaborationsCongenital AbnormalityCongenital Anatomical AbnormalityCongenital DefectsCongenital DeformityCongenital MalformationDataDevelopmentDietDihydronicotinamide Adenine DinucleotideDiphosphopyridine NucleotideDiseaseDisorderEarly Infantile AutismEmbryoEmbryo DevelopmentEmbryogenesisEmbryonicEmbryonic DevelopmentEnvironmentEnzyme GeneEnzymesExtremitiesFamilyFutureGene variantGeneticGenetic DiseasesGoalsHabitual AbortionHepaticHereditary Metabolic DisorderHeterozygoteHumanInborn Errors of MetabolismIndividualInfantile AutismIntermediary MetabolismK3H enzymeKanner's SyndromeKidneyKidney Urinary SystemKynurenineKynurenine 3-monooxygenaseL-TryptophanL-kynurenine-3-hydroxylaseLearning DisordersLevotryptophanLimb structureLimbsLinkLiverLoss of HeterozygosityMammaliaMammalsMaternal NutritionMaternal dietMeasuresMedicineMendelian diseaseMendelian disorderMendelian genetic disorderMentorshipMetabolicMetabolic DiseasesMetabolic DisorderMetabolic PathwayMetabolic ProcessesMetabolismMiceMice MammalsModern ManMurineMusNadideNeural DevelopmentNiacinNicotinamide adenine dinucleotideNicotinamide-Adenine DinucleotideNicotinic AcidsNon-TrunkOrphan DiseasePathway interactionsPatientsPhenotypePlasmaPlasma SerumQOL improvementRare DiseasesRare DisorderRecurrent AbortionRecurrent MiscarriageResearch ResourcesResourcesReticuloendothelial System, Serum, PlasmaRiskRoleSourceSupplementationTechnologyTestingThesaurismosisTrainingTryptophanTryptophan MetabolismTryptophan Metabolism PathwayVariantVariationVertebraeVertebralallelic variantautism spectral disorderautism spectrum disorderautistic spectrum disorderbehavior phenotypebehavioral phenotypingcareerchronic spontaneous abortioncollegecollegiatecongenital anomalydevelopmentaldietarydietary manipulationdietsenzyme pathwaygenetic conditiongenetic disordergenetic variantgenomic variantglobal developmental delayhepatic body systemhepatic organ systemheterozygosityhigh riskimprovements in QOLimprovements in quality of lifeinborn metabolism disorderinsightkynurenatekynurenine 3-hydroxylasekynurenine hydroxylaseloss of functionmaternal nutrition during pregnancymetabolism disordermetabolism measurementmetabolomicsmetabonomicsmonogenic diseasemonogenic disordermother nutritionmouse modelmurine modelneurobehavioralneurodevelopmentnovelorphan disorderpathwaypost-natal developmentpostnatalpostnatal developmentprenatalpreventpreventingprobandquality of life improvementrenalsingle-gene diseasesingle-gene disorderskeletalsocial rolespine bone structuretargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttranslational investigatortranslational researchertranslational scientisttranslational studyunborn
Description preview
PROJECT SUMMARY/ABSTRACT
Genetic disruptions of the kynurenine pathway (KP) have been linked to congenital nicotinamide adenine
dinucleotide (NAD) deficiencies in families with a history of birth defects and recurrent miscarriages. Mammals
synthesize NAD from two pathways. The KP synthesizes NAD de novo from dietary tryptophan, whereas the…
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