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Cytochrome P450 Pharmacogenetics: New Lessons about SNPS, Haplotypes, and in vitro Test Systems
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Cytochrome P450 Pharmacogenetics: New Lessons about SNPS, Haplotypes, and in vitro Test Systems

 Export to Your Calendar 10/5/2020
When: October 5, 2020
11:00 AM ET
Where: Online Webinar

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Pharmacogenetics is currently entering the phase of clinical implementation. Indispensable prerequisites for success are (among others) relevant functional prediction and reliable genotyping. Although genetic polymorphisms of the most important drug metabolizing enzymes have been studied thoroughly in recent decades, phenotype prediction continues to be challenging, for example due to the influence of other, nongenetic factors, or due to the existence of unknown genetic determinants, e.g. rare variants or far distant variants, as suggested by some twin studies. But even well-known variants may harbor hidden secrets and reveal surprising novel insights if we look at them again with greater precision or with new test systems. In this Webinar I will start by looking at the CYP2D6 polymorphism, a paradigm of pharmacogenetics. present the most important variants and alleles and critically discuss what is known -or believed to be known- about their impact on function. This will shed some light on the ways by which SNPs influence function: namely not necessarily by a single but by several mechanisms. Since our in vitro test systems are usually unable to detect all biological effects, we may easily overlook something, potentially leading to misclassification, e.g. of variants being judged as benign when they are in fact damaging. Even worse, the damaging effect of one variant may be compensated by another stabilizing one, emphasizing the importance of haplotypes. Eventually, such considerations will also be helpful to develop more precise algorithms to predict effects of rare variants.

This webinar will be presented by Ulrich Zanger. 



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