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Search Results to Andrea Gaedigk

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research overview Dr. Gaedigk's research interests focus on genes involved in drug metabolism, transport and response and how genetic variation can explain the wide ranges of variability that are observed for protein function among individuals. Since many drugs are metabolized by Cytochrome P450 enzymes, much of her work has revolved around CYP enzymes, in particular CYP2D6. During her career, she has characterized the CYP2D6 gene locus in many ethnically different populations, discovered numerous allelic variants and developed methods that reliably identify variant alleles. Dr Gaedigk is the Director of the Pharmacogene Variation Consortium (PharmVar), which provides PGx gene nomenclature by serving as a centralized “next Generation’ pharmacogene data repository. In this capacity, she is also closely working with the Pharmacogenomic Knowledgebase (PharmGKB), a globally renown pharmacogenetics resource. Furthermore, her pharmacogenomic expertise is also recognized by her leadership role on several Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. Lastly, Dr. Gaedigk is also part of the GOLDILOKs initiative (Genomic- and Ontogeny-Linked Dose Individualization and cLinical Optimization for Kids) that seeks to better understand atomoxetine treatment for ADHD and develop clinical decision tools to optimize PGx-guided drug therapy.

One or more keywords matched the following items that are connected to Gaedigk, Andrea

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Concept Genetic Variation
Academic Article Characterization of cytochrome P450 2D6.1 (CYP2D6.1), CYP2D6.2, and CYP2D6.17 activities toward model CYP2D6 substrates dextromethorphan, bufuralol, and debrisoquine.
Academic Article Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans.
Academic Article Genetic determinants of variable metabolism have little impact on the clinical use of leading antipsychotics in the CATIE study.
Academic Article Characterization of the microsomal epoxide hydrolase gene in patients with anticonvulsant adverse drug reactions.
Academic Article Impact of the CYP2C19*17 allele on the pharmacokinetics of omeprazole and pantoprazole in children: evidence for a differential effect.
Academic Article Elucidation of CYP2D6 genetic diversity in a unique African population: implications for the future application of pharmacogenetics in the Xhosa population.
Academic Article Genetic variants of the drug-metabolizing enzyme CYP2D6 in Puerto Rican psychiatry patients: a preliminary report and potential implications for breast cancer patients.
Academic Article CYP2D6 update: revised nomenclature for CYP2D7/2D6 hybrid genes.
Academic Article Characterization of the CYP2D6 gene locus and metabolic activity in Indo- and Afro-Trinidadians: discovery of novel allelic variants.
Academic Article High-resolution melt analysis to detect sequence variations in highly homologous gene regions: application to CYP2B6.
Academic Article Pharmacogenetics in American Indian populations: analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes.
Academic Article Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity.
Academic Article Complexities of CYP2D6 gene analysis and interpretation.
Academic Article Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization.
Academic Article Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
Academic Article Developmental Expression of CYP2B6: A Comprehensive Analysis of mRNA Expression, Protein Content and Bupropion Hydroxylase Activity and the Impact of Genetic Variation.
Academic Article Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children With Cerebral Palsy.
Academic Article The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database.
Academic Article CYP2D6 genotype analysis of a Thai population: platform comparison.
Academic Article The Evolution of PharmVar.
Academic Article Impact of Genetic Variation on Pravastatin Systemic Exposure in Pediatric Hypercholesterolemia.
Academic Article Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
Academic Article Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project.
Academic Article PharmVar GeneFocus: CYP2D6.
Grant Genetic variation and variability in posaconazole pharmacokinetics in children
Academic Article Impact of SLCO1B1 Genetic Variation on Rosuvastatin Systemic Exposure in Pediatric Hypercholesterolemia.
Academic Article PharmVar GeneFocus: CYP2C19.
Academic Article Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update.
Academic Article PharmVar GeneFocus: CYP2B6.
Academic Article Genetic variability of CYP2D6, CYP3A4 and CYP3A5 among the Egyptian population.
Academic Article CYP2D6 Genetic Variation and Its Implication for Vivax Malaria Treatment in Madagascar.
Academic Article Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation.
Academic Article Influence of CYP2D6 genetic variation on adverse events with propafenone in the pediatric and young adult population.
Academic Article SLCO1B1 Genetic Variation Influence on Atorvastatin Systemic Exposure in Pediatric Hypercholesterolemia.

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  • Genetic Variation