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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.

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Academic Article Systematic genetic and genomic analysis of cytochrome P450 enzyme activities in human liver.
Academic Article In silico and in vitro identification of microRNAs that regulate hepatic nuclear factor 4a expression.
Academic Article Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization.
Academic Article Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population.
Academic Article The Evolution of PharmVar.
Academic Article PharmVar GeneFocus: CYP2D6.
Academic Article Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs.
Academic Article Retrospective Review of Pharmacogenetic Testing at an Academic Children's Hospital.
Academic Article Transfer learning enables prediction of CYP2D6 haplotype function.
Academic Article PharmVar GeneFocus: CYP2C9.
Academic Article Advancing CYP2D6 Pharmacogenetics through a Pharmacoequity Lens.

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