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Gaedigk, Andrea

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CYP2D6

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

Item Type	Name
Concept	Cytochrome P-450 CYP2D6
Concept	Cytochrome P-450 CYP2D6 Inhibitors
Academic Article	Concordance between tramadol and dextromethorphan parent/metabolite ratios: the influence of CYP2D6 and non-CYP2D6 pathways on biotransformation.
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	Unique CYP2D6 activity distribution and genotype-phenotype discordance in black Americans.
Academic Article	CYP2D6 inhibition by selective serotonin reuptake inhibitors: analysis of achievable steady-state plasma concentrations and the effect of ultrarapid metabolism at CYP2D6.
Academic Article	CYP2D6 poor metabolizer status can be ruled out by a single genotyping assay for the -1584G promoter polymorphism.
Academic Article	Discovery of a novel nonfunctional cytochrome P450 2D6 allele, CYP2D642, in African American subjects.
Academic Article	Combined phenotypic assessment of cytochrome p450 1A2, 2C9, 2C19, 2D6, and 3A, N-acetyltransferase-2, and xanthine oxidase activities with the "Cooperstown 5+1 cocktail".
Academic Article	Activities of cytochrome P450 1A2, N-acetyltransferase 2, xanthine oxidase, and cytochrome P450 2D6 are unaltered in children with cystic fibrosis.
Academic Article	Pharmacokinetics and CYP2D6 genotypes do not predict metoprolol adverse events or efficacy in hypertension.
Academic Article	Limited association of the 2988g > a single nucleotide polymorphism with CYP2D641 in black subjects.
Academic Article	Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans.
Academic Article	CYP2D7 splice variants in human liver and brain: does CYP2D7 encode functional protein?
Academic Article	Identification of CYP2D6 impaired functional alleles in Mexican Americans.
Academic Article	Multiple dose pharmacokinetics of paroxetine in children and adolescents with major depressive disorder or obsessive-compulsive disorder.
Academic Article	CYP2D636 gene arrangements within the cyp2d6 locus: association of CYP2D636 with poor metabolizer status.
Academic Article	Maribavir pharmacokinetics and the effects of multiple-dose maribavir on cytochrome P450 (CYP) 1A2, CYP 2C9, CYP 2C19, CYP 2D6, CYP 3A, N-acetyltransferase-2, and xanthine oxidase activities in healthy adults.
Academic Article	Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother.
Academic Article	Cytochrome P4502D6 (CYP2D6) gene locus heterogeneity: characterization of gene duplication events.
Academic Article	Ontogeny of dextromethorphan O- and N-demethylation in the first year of life.
Academic Article	Identification and characterization of CYP2D6*56B, an allele associated with the poor metabolizer phenotype.
Academic Article	Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine.
Academic Article	The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype.
Academic Article	The CYP2D6 gene locus in South African Coloureds: unique allele distributions, novel alleles and gene arrangements.
Academic Article	Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study.
Academic Article	Evaluation of a [13C]-dextromethorphan breath test to assess CYP2D6 phenotype.
Academic Article	Identification of a novel non-functional CYP2D6 allele, CYP2D6*69, in a Caucasian poor metabolizer individual.
Academic Article	Six-month, prospective, longitudinal, open-label caffeine and dextromethorphan phenotyping study in children with growth hormone deficiency receiving recombinant human growth hormone replacement.
Academic Article	Reduced activities of cytochrome P450 1A2 and xanthine oxidase in children with growth hormone deficiency.
Academic Article	CYP2D7-2D6 hybrid tandems: identification of novel CYP2D6 duplication arrangements and implications for phenotype prediction.
Academic Article	Discovery of the nonfunctional CYP2D6 31 allele in Spanish, Puerto Rican, and US Hispanic populations.
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	Assessment of activity levels for CYP2D61, CYP2D62, and CYP2D6*41 genes by population pharmacokinetics of dextromethorphan.
Academic Article	Genetic transmission of cytochrome P450 2D6 (CYP2D6) ultrarapid metabolism: implications for breastfeeding women taking codeine.
Academic Article	The neuroprotective enzyme CYP2D6 increases in the brain with age and is lower in Parkinson's disease patients.
Academic Article	Detection and characterization of the CYP2D6*9x2 gene duplication in two Spanish populations: resolution of AmpliChip CYP450 test no-calls.
Academic Article	CYP2D6, SULT1A1 and UGT2B17 copy number variation: quantitative detection by multiplex PCR.
Academic Article	Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for codeine therapy in the context of cytochrome P450 2D6 (CYP2D6) genotype.
Academic Article	In silico and in vitro identification of microRNAs that regulate hepatic nuclear factor 4a expression.
Academic Article	Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants.
Academic Article	CYP2D6 update: revised nomenclature for CYP2D7/2D6 hybrid genes.
Academic Article	Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism.
Academic Article	Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study.
Academic Article	Characterization of the CYP2D6 gene locus and metabolic activity in Indo- and Afro-Trinidadians: discovery of novel allelic variants.
Academic Article	Pharmacogenetics in American Indian populations: analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes.
Academic Article	Polymorphisms in CYP2D6 may predict methamphetamine related heart failure.
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	Characterization of a complex CYP2D6 genotype that caused an AmpliChip CYP450 Test no-call in the clinical setting.
Academic Article	Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450 2D6 genotype and codeine therapy: 2014 update.
Academic Article	Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization.
Academic Article	CYP2D6 and pharmacogenomics: where does future research need to focus? Part 1: technical aspects.
Academic Article	CYP2D6 and pharmacogenomics: where does future research need to focus? Part 2: clinical aspects.
Academic Article	Resolution of a clinical AmpliChip CYP450 Test? no call: discovery and characterization of novel CYP2D6*1 haplotypes.
Academic Article	Debrisoquine/sparteine hydroxylation genotype and phenotype: analysis of common mutations and alleles of CYP2D6 in a European population.
Academic Article	Detection of an endogenous urinary biomarker associated with CYP2D6 activity using global metabolomics.
Academic Article	SNP genotyping using TaqMan technology: the CYP2D6*17 assay conundrum.
Academic Article	Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors.
Academic Article	Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population.
Academic Article	In vivo characterization of CYP2D612, 29 and *84 using dextromethorphan as a probe drug: a case report.
Academic Article	CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification: Resolution of a Complex Genotype and a Discordant Genotype Involving the CYP2D6*59 Allele.
Academic Article	Pharmacogenetic comparison of CYP2D6 predictive and measured phenotypes in a South African cohort.
Academic Article	Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.
Academic Article	Single dose, CYP2D6 genotype-stratified pharmacokinetic study of atomoxetine in children with ADHD.
Academic Article	CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 () 15 and () 35 Genotyping.
Academic Article	Role of Pharmacogenetics in Improving the Safety of Psychiatric Care by Predicting the Potential Risks of Mania in CYP2D6 Poor Metabolizers Diagnosed With Bipolar Disorder.
Academic Article	Prediction of CYP2D6 phenotype from genotype across world populations.
Academic Article	Pharmacogenetics to prevent maniac affective switching with treatment for bipolar disorder: CYP2D6.
Academic Article	Comparison of three CYP2D6 probe substrates and genotype in Ghanaians, Chinese and Caucasians.
Academic Article	Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update.
Academic Article	Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 genotype and use of ondansetron and tropisetron.
Academic Article	Quantification of intraindividual variability and the influence of menstrual cycle phase on CYP2D6 activity as measured by dextromethorphan phenotyping.
Academic Article	Impact of CYP2D6 genotype on amitriptyline efficacy for the treatment of diabetic peripheral neuropathy: a pilot study.
Academic Article	Pharmacogenetic comparison of CYP2D6 predictive and measured phenotypes in a South African cohort.
Academic Article	Association between CYP2D6 Genotypes and the Risk of Antidepressant Discontinuation, Dosage Modification and the Occurrence of Maternal Depression during Pregnancy.
Academic Article	Identification of the primary gene defect at the cytochrome P450 CYP2D locus.
Academic Article	Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Academic Article	Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Academic Article	Impact of CYP2D6 on venlafaxine metabolism in Trinidadian patients with major depressive disorder.
Academic Article	Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy.
Academic Article	Ten Years' Experience with the CYP2D6 Activity Score: A Perspective on Future Investigations to Improve Clinical Predictions for Precision Therapeutics.
Academic Article	High frequency of CYP2D6 poor and "intermediate" metabolizers in black populations: a review and preliminary data.
Academic Article	Dose dependency of dextromethorphan for cytochrome P450 2D6 (CYP2D6) phenotyping.
Academic Article	Optimization of cytochrome P4502D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data.
Academic Article	Interethnic differences of drug-metabolizing enzymes.
Academic Article	Limitations of dextromethorphan N-demethylation as a measure of CYP3A activity.
Academic Article	Combined phenotypic assessment of CYP1A2, CYP2C19, CYP2D6, CYP3A, N-acetyltransferase-2, and xanthine oxidase with the "Cooperstown cocktail".
Academic Article	Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model.
Academic Article	CYP2D6 genotype analysis of a Thai population: platform comparison.
Academic Article	Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.
Academic Article	Clinical Pharmacogenetics Implementation Consortium Guideline for Cytochrome P450 (CYP)2D6 Genotype and Atomoxetine Therapy.
Academic Article	Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project.
Academic Article	Cardiovascular benefits of tyrosol and its endogenous conversion into hydroxytyrosol in humans. A randomized, controlled trial.
Academic Article	Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.
Academic Article	PharmVar GeneFocus: CYP2D6.
Grant	Polymorphism of CYP2D6 enzymes in African Americans
Grant	CYP2D6 Genotype and Neurocognitive Dysfunction in Methamphetamine Users with and without HIV
Grant	Exogenous and endogenous biomarkers of CYP2D6 variability in pediatrics
Academic Article	Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.
Academic Article	A Call for Clear and Consistent Communications Regarding the Role of Pharmacogenetics in Antidepressant Pharmacotherapy.
Academic Article	Long-Distance Phasing of a Tentative "Enhancer" Single-Nucleotide Polymorphism With CYP2D6 Star Allele Definitions.
Academic Article	The Respective Roles of CYP3A4 and CYP2D6 in the Metabolism of Pimozide to Established and Novel Metabolites.
Academic Article	Retrospective Review of Pharmacogenetic Testing at an Academic Children's Hospital.
Academic Article	CYP2D6 predicts plasma donepezil concentrations in a cohort of Thai patients with mild to moderate dementia. https://doi.org/10.2147/PGPM.S276230
Academic Article	Transfer learning enables prediction of CYP2D6 haplotype function.
Academic Article	Review and Consensus on Pharmacogenomic Testing in Psychiatry.
Academic Article	CYP2D6 Predicts Plasma Donepezil Concentrations in a Cohort of Thai Patients with Mild to Moderate Dementia.
Academic Article	Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy.
Academic Article	Relationship between CYP2D6 genotype, activity score and phenotype in a pediatric Thai population treated with risperidone.
Academic Article	Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.
Academic Article	CYP2D6 genotype and reduced codeine analgesic effect in real-world clinical practice.
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	Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes.
Academic Article	Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy.
Academic Article	A cross-sectional study of the relationship between CYP2D6 and CYP2C19 variations and depression symptoms, for women taking SSRIs during pregnancy.
Academic Article	CYP2D69 and 41: Does the Activity Value Assigned to these Alleles Need to be Reduced to more Accurately Predict Phenotype?
Academic Article	The Impact of the CYP2D6 "Enhancer" Single Nucleotide Polymorphism on CYP2D6 Activity.
Academic Article	CYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study.
Academic Article	Case Report: Pharmacogenetics Applied to Precision Psychiatry Could Explain the Outcome of a Patient With a New CYP2D6 Genotype.
Academic Article	The Identification of Novel CYP2D6 Variants in US Hmong: Results From Genome Sequencing and Clinical Genotyping.
Academic Article	Influence of CYP2D6 genetic variation on adverse events with propafenone in the pediatric and young adult population.
Academic Article	A longitudinal study of cytochrome P450 2D6 (CYP2D6) activity during adolescence.
Academic Article	Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations.
Academic Article	Pediatric CYP2D6 metabolizer status and post-tonsillectomy nausea and vomiting after ondansetron.
Academic Article	Advancing CYP2D6 Pharmacogenetics through a Pharmacoequity Lens.
Academic Article	Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.
Academic Article	Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing.
Academic Article	PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.

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CYP2D6