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PharmGKB Staff

The National Institutes of Health Awards $14 million to Stanford Researchers for Precision Medicine Projects

The National Institute for General Medical Sciences (NIGMS) has awarded a $10 million grant to Dr. Teri Klein and Dr. Russ Altman to continue and expand the Pharmacogenomics Knowledgebase (PharmGKB), the premier resource for curated knowledge about the impact of human genetic variation on drug responses. In addition, Dr. Klein

PharmGKB efavirenz pharmacokinetic pathway published in Pharmacogenetics and Genomics

The PharmGKB summary describing the efavirenz (EFV) pharmacokinetic pathway, and the pharmacogenetic variants that affect EFV pharmacokinetics has been published by Pharmacogenetics & Genomics. Efavirenz (EFV) is a non-nucleoside reverse transcriptase inhibitor that is used as part of a highly active anti-retroviral therapy (ART) regimen (HAART) against HIV-1 infection. The

NAT2 plays a role in insulin sensitivity

N-acetyltransferase 2 (NAT2) has long been known to metabolize xenobiotics but the endogenous substrates of NAT2 remain unknown. A new study published in “The Journal of Clinical Investigation” provides convincing evidence that NAT2 plays a role in the regulation of insulin sensitivity. The authors of the study reported that several

Our 10-step guide to enabling your PGx study to be curated

At PharmGKB we manually curate pharmacogenetic (PGx) associations found in published articles and add them to our database. However, lack of information or clarity is unfortunately common in publications and these hurdles make it difficult or impossible to curate a particular association. We have published a guideline in Clinical Pharmacology

PharmGKB VIP summary for CFTR published

The PharmGKB summary describing CFTR as a pharmacogene has been published by Pharmacogenetics & Genomics. Genetic variants within the CFTR gene are the target of new Cystic Fibrosis therapies and drugs in development. The hope is that patients will be better treated with personalized medicines tailored to the underlying defects

President Obama Unveils Details of the Precision Medicine Initiative

President Obama has requested that congress authorize $215 million dollars to fund the newly announced Precision Medicine Initiative. In addition to focusing on the development of cancer treatments tailored to individual cancers the initiative proposes to develop a research consortium to do a longitudinal cohort study of one million people.

PharmGKB VIP Summary for CYP4F2 published in Pharmacogenetics and Genomics

The PharmGKB Very Important Pharmacogene (VIP) summary describing important pharmacogenetic variants in CYP4F2 was recently published by Pharmacogenetics & Genomics. Cytochrome p450, family 2, subfamily F, polypeptide 2 (CYP4F2) catalyzes the oxidation of the terminal carbon of the side chains of vitamin K, vitamin E, arachidonic acid (AA), and leukotriene

The genetics of warfarin dose: focus on African Americans

Warfarin has a narrow therapeutic window, therefore it is important to get the dosage for a patient correct - too low or too high a dose can have dangerous consequences. However, there is large interindividual variability in dose. Incorporation of a patient's genotypes at the polymorphisms CYP2C9*2

Gemcitabine pathway published in Pharmacogenetics and Genomics

Gemcitabine is a cancer drug used to treat solid tumors as well as certain blood cancers. It can be administered alone or in combination with other drugs as part of a chemotherapy regimen. The genetic variants hypothesized to play a role in the variability of patient response to gemcitabine as

PGx of anti-HIV drug described in new PharmGKB pathway

Efavirenz (EFV) is a non-nucleoside reverse transcriptase inhibitor used as part of a highly active anti-retroviral therapy (HAART) regimen against HIV-1 infection. Large variability in EFV plasma levels is observed between patients given the same dose. Genetic variants underlying EFV metabolism have been shown to contribute to this variability. A