Designing and Implementing Pharmacogenomics Study

Son, Yeşim Aydın; Hızel, Candan

doi:10.1007/978-81-322-1184-6_6

Cited by 3 publications

(3 citation statements)

References 193 publications

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“…Before carrying out any power calculation for determining PgV study sample size, one has to know the frequency of the ADE(s) associated with the drug of interest (effect size) in addition to the genetic polymorphisms' pattern of inheritance, linkage disequilibrium and minor allele frequency [61]. Given the limited frequency of most adverse events, a high rate of participants' inclusion is needed.…”

Section: Sample Size Calculation and Study Designmentioning

confidence: 99%

Pharmacogenovigilance: A Pharmacogenomics Pharmacovigilance Program

Awada

Zgheib

2014

Pharmacogenomics

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In this report, we review the importance of pharmacovigilance in detecting postmarketing adverse drug events and the potential for developing pharmacogenovigilance programs by integrating pharmacogenomics with pharmacovigilance. We propose to start developing such a program in primary healthcare systems that use basic features of electronic medical records and have access to large numbers of patients commonly prescribed drugs. Such programs, if carefully designed, may grow over time and hopefully enhance the collection and interpretation of useful data for the clinical applications of pharmacogenomics testing.

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Section: Sample Size Calculation and Study Designmentioning

confidence: 99%

Pharmacogenovigilance: A Pharmacogenomics Pharmacovigilance Program

Awada

Zgheib

2014

Pharmacogenomics

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“…A better understanding of which genes are not only associated with drug response but also causally involved would add tremendous value to pharmacogenomics data, permitting a more intelligent utilization of such genes as diagnostic signatures, and as putative drug targets to improve drug response. 1 , 18 …”

Section: Introductionmentioning

confidence: 99%

“…Hence, there is clearly an unmet need to develop and apply genome-compatible strategies and technologies to identify functional modulators of drug response. 1 , 18 …”

Section: Introductionmentioning

confidence: 99%

Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran

Rizk

2017

PGPM

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RNA interference (RNAi) is a naturally existing endogenous mechanism for post-transcriptional gene regulation, nowadays commonly utilized for functional characterization of genes and development of potential treatment strategies for diseases. RNAi-based studies for therapy, after being examined for over a decade, are finally in the pipeline for developing a potential treatment for the mutated transthyretin (TTR) gene, which gives rise to a dysfunctional TTR protein. This dysfunctional protein causes TTR amyloidosis (ATTR), an inherited, progressively incapacitating, and often fatal genetic disorder. TTR is a protein produced in the liver, and functions as a carrier for retinol-binding protein and also thyroxine. This protein facilitates the transport of vitamin A around the human body. A mutation or misprint in the code of this protein results in an abnormal folding of the protein. Therefore, not only does the transportation of the vitamin A become disabled, but also there will be formation of clusters called amyloid deposits, which attack the heart and the nerves causing some patients to be unconditionally bound to bed. ATTR is a hereditary autosomal dominant disease with a 50% chance of inheritance by offspring, even with just one of the parents having a single defective allele of this gene. Alnylam Pharmaceuticals worked on the concept of RNAi therapy for years, which led to the introduction of lipid nanoparticles encircling small interfering RNAs. The drug showed extremely positive results since the first trial, and a great percentage of defective protein reduction. This drug was later named Patisiran.

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Highly Personalized Reports for Personalized Drug Selection by Expert Systems as Clinical Decision Support

Hizel

2017

Per. Med.

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Designing and Implementing Pharmacogenomics Study

Cited by 3 publications

References 193 publications

Pharmacogenovigilance: A Pharmacogenomics Pharmacovigilance Program

Pharmacogenovigilance: A Pharmacogenomics Pharmacovigilance Program

Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran

Highly Personalized Reports for Personalized Drug Selection by Expert Systems as Clinical Decision Support

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