grant
Rare & Mosaic Disorders Molecular Research
Organization NATIONAL HUMAN GENOME RESEARCH INSTITUTELocation UNITED STATES
NIHUS FederalResearch GrantFY2025AKTAKT1AKT1 geneAffectAgreementAkt proteinAllelesAllelomorphsAnimal ModelAnimal Models and Related StudiesAnimalsAnti-Cancer AgentsAntineoplastic AgentsAntineoplastic DrugsAntineoplasticsAwardBehavioralBiologic ModelsBiological FunctionBiological ModelsBiological ProcessBiomechanicsBiotechBiotechnologyCRADACancer DrugCancersCausalityCell BodyCell Culture TechniquesCellsClinicalClinical DataClinical ResearchClinical Research ProtocolsClinical StudyClinical TrialsCollaborationsCooperative Research and Development AgreementCoupledDNA Molecular BiologyDNA mutationDataDevelopmentDiseaseDisorderDoseDrug IndustryDrug TherapyElephant Man DiseaseEmbryoEmbryonicEnrollmentEtiologyExperimental ModelsFetal TherapiesGene AbnormalityGeneralized GrowthGenesGenetic ChangeGenetic DiseasesGenetic defectGenetic mutationGenomicsGenotypeGrowthGrowth DisordersHigh-Throughput Nucleotide SequencingHigh-Throughput SequencingHumanHuman GeneticsIn VitroKnock-inLaboratoriesMalignant NeoplasmsMalignant TumorMediationMiceMice MammalsModel SystemModelingModern ManModernizationMolecularMolecular BiologyMolecular GeneticsMosaicismMurineMusMutationNatural HistoryNegotiatingNegotiationNeoplastic Disease Chemotherapeutic AgentsOrphan DiseaseOther GeneticsPI3K-AlphaPIK3-AlphaPIK3CAPIK3CA genePRKBAPathogenesisPatientsPharmaceutic IndustryPharmaceutical IndustryPharmacological TreatmentPharmacotherapyPhasePhenotypePhosphatidylinositol 3-Kinase, Catalytic, 110-kD, AlphaPhosphatidylinositol 3-Kinase, Catalytic, AlphaPostdocPostdoctoral FellowProtein Kinase BProteinsProteusProteus SyndromeProteus syndrome (PS)Proto-Oncogene Proteins c-aktProtocolProtocols documentationPublishingRAC-ALPHARAC-ALPHA GeneRAC-PK proteinRAC-PK-AlphaRapamuneRapamycinRare DiseasesRare DisorderResearchResearch AssociateSamplingSeveritiesShapesSirolimusStressSyndromeSystemTestingTherapeuticTherapeutic AgentsTherapeutic InterventionTherapeutic StudiesTherapy ResearchTimeTissue GrowthTranslational ResearchTranslational ScienceTreatment ProtocolsTreatment RegimenTreatment ScheduleTumor-Specific Treatment AgentsVascular remodelingWiedemann syndrome 2Workanti-cancer drugbiomechanicalc-akt proteincausationcell culturecell culturescohortdevelopmentaldisease causationdisease modeldisorder modeldrug interventiondrug treatmentenrollfeature detectionfeature recognitionfetus therapygene productgenetic conditiongenetic disordergenome mutationhuman modelin utero therapyinduced Creinducible Creinhibitorintervention therapyknockinmalformationmalignancymodel of animalmodel of humanmosaicmosaic diseasesmosaic disordersmouse modelmurine modelneoplasm/cancernew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnovelnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapyontogenyorphan disorderp110-Alphapharmaceutical interventionpharmacological interventionpharmacological therapypharmacology interventionpharmacology treatmentpharmacotherapeuticsphase 2 studyphase 2 trialphase II studyphase II trialpositional cloningpost-docpost-doctoralpost-doctoral traineeprenatalprenatal therapyprimary outcomeproteiform syndromeproto-oncogene protein RACproto-oncogene protein aktrac protein kinaserecruitrelated to A and C-proteinresearch associatessuccesstargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttissue culturetooltranslation researchtranslational investigationtumorunborn
Description preview
Overall Approach of the laboratory
The laboratory uses a translational research approach to study human malformations and overgrowth disorders. In the clinical arena (study HG200388), we operate several clinical research protocols to assess the range of severity, spectrum of malformations, natural history of pleiotropic developmental and…
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