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Gaedigk, Andrea

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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

Item Type	Name
Concept	Alleles
Concept	Amino Acid Sequence
Concept	Base Sequence
Concept	Gene Amplification
Concept	Gene Expression Regulation
Concept	Gene Frequency
Concept	Genes
Concept	Genes, Fungal
Concept	Multigene Family
Concept	Molecular Sequence Data
Concept	Sequence Homology, Nucleic Acid
Concept	Gene Rearrangement
Concept	Gene Library
Concept	Gene Expression
Concept	Genome, Human
Concept	Gene Expression Regulation, Enzymologic
Concept	Open Reading Frames
Concept	Consensus Sequence
Concept	Genome, Fungal
Concept	Conserved Sequence
Concept	Gene Deletion
Concept	Sequence Homology, Amino Acid
Concept	Genes, Reporter
Concept	Gene Expression Regulation, Developmental
Concept	Gene Dosage
Concept	Catalytic Domain
Concept	Gene Duplication
Concept	Polymorphism, Single Nucleotide
Concept	Gene Expression Profiling
Concept	Genetic Loci
Academic Article	Cytochrome P4502C9 (CYP2C9) allele frequencies in Canadian Native Indian and Inuit populations.
Academic Article	Unique CYP2D6 activity distribution and genotype-phenotype discordance in black Americans.
Academic Article	Genetic Heterogeneity in the rRNA Gene Locus of Trichophyton tonsurans.
Academic Article	Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans.
Academic Article	Variability of CYP3A7 expression in human fetal liver.
Academic Article	CYP2D636 gene arrangements within the cyp2d6 locus: association of CYP2D636 with poor metabolizer status.
Academic Article	Cytochrome P4502D6 (CYP2D6) gene locus heterogeneity: characterization of gene duplication events.
Academic Article	Identification and characterization of CYP2D6*56B, an allele associated with the poor metabolizer phenotype.
Academic Article	Effect of arylamine acetyltransferase Nat3 gene knockout on N-acetylation in the mouse.
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	CYP2D7-2D6 hybrid tandems: identification of novel CYP2D6 duplication arrangements and implications for phenotype prediction.
Academic Article	Characterization of the microsomal epoxide hydrolase gene in patients with anticonvulsant adverse drug reactions.
Academic Article	UGT2B17 and SULT1A1 gene copy number variation (CNV) detection by LabChip microfluidic technology.
Academic Article	Impact of the CYP2C19*17 allele on the pharmacokinetics of omeprazole and pantoprazole in children: evidence for a differential effect.
Academic Article	Discovery of the nonfunctional CYP2D6 31 allele in Spanish, Puerto Rican, and US Hispanic populations.
Academic Article	Systematic genetic and genomic analysis of cytochrome P450 enzyme activities in human liver.
Academic Article	Assessment of activity levels for CYP2D61, CYP2D62, and CYP2D6*41 genes by population pharmacokinetics of dextromethorphan.
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	In silico and in vitro identification of microRNAs that regulate hepatic nuclear factor 4a expression.
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	Epitope mapping studies with human anti-cytochrome P450 3A antibodies.
Academic Article	High-resolution melt analysis to detect sequence variations in highly homologous gene regions: application to CYP2B6.
Academic Article	Cloning, structural organization, and chromosomal mapping of the human phenol sulfotransferase STP2 gene.
Academic Article	Complexities of CYP2D6 gene analysis and interpretation.
Academic Article	Human acetyltransferase polymorphisms.
Academic Article	Tissue-specific expression and alternative splicing of human microsomal epoxide hydrolase.
Academic Article	Age-Related Changes in MicroRNA Expression and Pharmacogenes in Human Liver.
Academic Article	Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
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	Developmental Expression of CYP2B6: A Comprehensive Analysis of mRNA Expression, Protein Content and Bupropion Hydroxylase Activity and the Impact of Genetic Variation.
Academic Article	CYP450 genotype and pharmacogenetic association studies: a critical appraisal.
Academic Article	Rifampin Regulation of Drug Transporters Gene Expression and the Association of MicroRNAs in Human Hepatocytes.
Academic Article	Prediction of CYP2D6 phenotype from genotype across world populations.
Academic Article	NAD(P)H:quinone oxidoreductase: polymorphisms and allele frequencies in Caucasian, Chinese and Canadian Native Indian and Inuit populations.
Academic Article	Comparison of three CYP2D6 probe substrates and genotype in Ghanaians, Chinese and Caucasians.
Academic Article	Warfarin Anticoagulation Therapy in Caribbean Hispanics of Puerto Rico: A Candidate Gene Association Study.
Academic Article	Identification of the primary gene defect at the cytochrome P450 CYP2D locus.
Academic Article	Impact of CYP2D6 on venlafaxine metabolism in Trinidadian patients with major depressive disorder.
Academic Article	Optimization of cytochrome P4502D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data.
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	Pharmacogene Variation Consortium Gene Introduction: NUDT15.
Academic Article	Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
Academic Article	Cardiovascular benefits of tyrosol and its endogenous conversion into hydroxytyrosol in humans. A randomized, controlled trial.
Academic Article	The McGraw-Hill Companies, New York, Bertino, J.S. Jr., Kashuba, A.D.M., Ma, J.D., Fuhr, U. and DeVane, C.L. (eds.)
Academic Article	Textbook of Pharmacogenomics: an Introduction and Clinical Perspective. The McGraw-Hill Companies, New York, Bertino, J.S. Jr., Kashuba, A.D.M., Ma, J.D., Fuhr, U. and DeVane, C.L. (eds.)
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	Genetic variability of CYP2D6, CYP3A4 and CYP3A5 among the Egyptian population.
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	CYP2D69 and 41: Does the Activity Value Assigned to these Alleles Need to be Reduced to more Accurately Predict Phenotype?
Academic Article	CYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study.
Academic Article	Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing.
Academic Article	SLCO1B1 Genetic Variation Influence on Atorvastatin Systemic Exposure in Pediatric Hypercholesterolemia.

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