grant
Understanding the pathogenesis of and identifying treatments for albinism
Organization NATIONAL EYE INSTITUTELocation UNITED STATES
NIHUS FederalResearch GrantFY20250-11 years old21+ years old3D cell culture3D cultureAAV deliveredAAV deliveryAAV-based deliveryAAV-based viral deliveryAAV-mediated deliveryAdeno-associated-virus-based deliveryAdultAdult HumanAlbinismAmblyopiaAxonBlindnessCRISPRCRISPR/Cas systemChiasmaChiasma OpticumChildChild YouthChildren (0-21)Clustered Regularly Interspaced Short Palindromic RepeatsCollaborationsCollectionCommon Rat StrainsCresolaseDNA TherapyDiminished VisionDockingDopa OxidaseDrug TherapyDrugsEarly treatmentEnzymatic BiochemistryEnzymologyEpidermisEyeEyeballFDA approvedFibroblastsGene TargetingGene Transfer ClinicalGenetic InterventionGlareGoalsHPLCHairHigh Performance Liquid ChromatographyHigh Pressure Liquid ChromatographyHigh Speed Liquid ChromatographyHumanHypomelanosisHypopigmentationIn VitroLengthLibrariesLight SensitivityLow VisionManuscriptsMeasuresMedicationMelaninsModelingModern ManMolecular Modeling Nucleic Acid BiochemistryMolecular Modeling Protein/Amino Acid BiochemistryMolecular ModelsMonophenol MonooxygenaseNCATSNational Center for Advancing Translational SciencesNatural ProductsOculocutaneous AlbinismOculocutaneous albinism type 1Oculomotor MusclesOperative ProceduresOperative Surgical ProceduresOptic ChiasmOptic ChiasmaOptic ChiasmasOptic DecussationOralPartial SightPathogenesisPathologic NystagmusPatientsPharmaceutical AgentPharmaceutical PreparationsPharmaceuticalsPharmacologic SubstancePharmacological SubstancePharmacological TreatmentPharmacotherapyPhenol OxidasePhenoloxidasePhotophobiaPigmentationPigmentation physiologic functionPilot ProjectsProteinsRatRats MammalsRattusReduced VisionRefractive DisordersRefractive ErrorsResearchRoleSightSkinSubnormal VisionSurgicalSurgical InterventionsSurgical ProcedureTestingTyrosinaseVisionVisual impairmentWorkWritingadeno-associated viral vector deliveryadeno-associated virus deliveryadeno-associated virus mediated deliveryadenovirus mediated deliveryadulthoodautosomedelivered with AAVdelivery with AAVdisease-in-a-dishdrug interventiondrug treatmentdrug/agentearly therapyexperienceexperimentexperimental researchexperimental studyexperimentsextraocular muscleeye refraction disordergangliocyteganglion cellgene repair therapygene replacement therapygene therapygene-based therapygenetic therapygenomic therapyhigh-throughput drug screeninghuman modeliPSC technologyimprovedinduced pluripotent stem cell technologyinhibitorkidsleukodermamaculamacularmelanocytemodel of humanmolecular modelingmonophenol oxidasemouse modelmurine modelnaturally occurring productnystagmusorbit muscleorbital musclepharmaceuticalpharmaceutical interventionpharmacological interventionpharmacological therapypharmacology interventionpharmacology treatmentpharmacotherapeuticspigmentationspilot studypostnatalprotein purificationsocial rolesurgerythree dimensional cell culturevision aidvision impairmentvision lossvisual functionvisual lossvisually impairedyoungster
Description preview
1. High-throughput drug screening to identify compounds that regulate Tyr activity
We used purified, truncated Tyr protein (previously tested and validated to have equivalent enzymatic activity to full length protein) in a high-throughput drug screening. In collaboration with NCATS, we screened 34,000 compounds from the Genesis Drug Collection,…
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