ClinPGx Blog (Page 30)

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Very Important Pharmacogene: RYR1

The new Very Important Pharmacogene (VIP) Summary of RYR1 describes important pharmacogenetic associations as well as disease associations with variants in RYR1. RYR1 encodes a single sub-unit of the ryanodine receptor isoform 1 (RYR1), the predominant ryanodine receptor isoform of skeletal muscle. RYR1 is a calcium channel of the sarcoplasmic

Precision Medicine Initiative Working Group Releases Report

The Precision Medicine Initiative (PMI) Working Group of the Advisory Committee to the (NIH) Director (ACD) has recently presented a detailed report to the ACD with recommendations on how to a build and manage a diverse research cohort of 1 million people for the PMI. The report discusses a framework

Electronic Medical Records and Genomics (eMERGE) Network to receive more than $48 million from the National Institutes of Health

NIH grants totaling more than $48 million dollars have been awarded to support phase III of the eMERGE network program. eMERGE is a consortium of research institutions focused on linking genome-wide genotyping or sequencing data with patient electronic medical records (EMRs) in order to improve patient care. eMERGE PGx, a

PharmGKB Pathway Peginterferon-α published in Pharmacogenetics and Genomics

The PharmGKB summary: peginterferon-α pathway has been published in the Pharmacogenetics and Genomics Journal. Peginterferon-α (pegylated interferon-α or PEG-IFN-α) is an antiviral drug used to treat chronic hepatitis C virus (HCV) infection. The PharmGKB review summarizes the pharmacokinetics and pharmacodynamics of peginterferon-α and also discusses genetic variations around the IFNL3

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

Remembering PharmGKB Alum Steve Lin

The PharmGKB team is deeply saddened by news of the recent passing of Steve Lin. Steve was one of the first developers at PharmGKB and he helped to create the initial version of the resource. He will be greatly missed. Our sincere condolences go to his family in their time

Medication Safety Code Initiative Looking for Survey Participants

The Medication Safety Code (MSC) Initiative (http://safety-code.org/) aims to improve the portability of pharmacogenetic data by enabling patients to carry information about their pharmacogenetic test results with them so it is available at the point of care. The MSC system utilizes a QR (2D) barcode that can be

CPIC Guideline Update for Allopurinol and HLA-B*58:01 Published

The 2015 update of CPIC guideline for allopurinol and HLA-B*58:01 has been published in Clinical Pharmacology and Therapeutics. CPIC extensively reviewed the recent literature and concluded that the dosing recommendations provided in the 2013 CPIC guideline have not changed. The 2015 update includes the following additions: * Updated evidence

March/April SNPits Summary

In the March/April issue of UF Health Personalized Medicine Program's e-newsletter, SNPits, a recent study in the Lancet supports the benefit of pharmacogenomic testing for warfarin dosing is reviewed. The authors found that those patients with warfarin-sensitive genotypes were more likely to be over-anticoagulated in the first

Annotated Health Canada product monographs now available on PharmGKB

PharmGKB now has annotated drug labels (referred to as product monographs) available from Health Canada/Santé Canada (HCSC). PDF copies of the product monographs were sourced from HCSC's Drug Product Database (DPD). As with the annotated U.S. Food and Drug Administration (FDA), European Medicines Agency (EMA) and