Read Eric Green's article about the NHGRI Genomic Medicine working Group (GMWG) held May 2-3 2017 at
For future NHGRI news and events, visit
The PGRN-Hub strives to make the Pharmacogenomics Research Network (PGRN) more effective for its members, and to that end is pleased to announce the inaugural PGRN-wide member call, to be held via web conferencing on Friday, April 7, 2017 at 11 am Pacific time / 1 pm Eastern time.
On this call, PGRN members will be provided with an overview of some of the resources provided by the PGRN-Hub to the pharmacogenomics research community, with a tour of some of the key features of our website. We will discuss the PGRN-RIKEN and BioBank Japan resources, and provide instructions on how to submit a proposal while also sharing tips from successful applicants.
In addition, there will be a discussion on PGRN Member Communities, in which PGRN members with similar interests could form interest groups and plan PGRN activities. Members will also be provided with an opportunity to provide feedback and comments on the PGRN during an open discussion session.
Not yet a member? Apply for PGRN membership today by clicking here.
The first CPIC Meeting was held in March at the ASCPT annual meeting!
Despite the winter weather in Washington D.C., the meeting was well attended by scientists and clinicians from academia, industry and government. This meeting brought together individuals who are passionate about translational science and implementation. Real-world strategies for implementing pharmacogenetics were described, for example the feasibility of CYP2C19 genotyping for clopidogrel response (by IGNITE Network) Successful implementation of actionable gene-drug pairs using genotype data was included in symposium (by PharmCAT). In contrast, speakers from two centers shared their tougher challenges for implementation, in particular, use of pharmacogenetics in different ethnic groups to guide dosing of warfarin and the use of CYP2D6 genotype for tamoxifen in breast cancer. In the final session of the meeting, four spectacular scientists shared their successes and challenges of pharmacogenetics implementation in different parts of the world, from Europe, to Asia and to Africa. The huge global effort in implementation of pharmacogenetics has been aided by the support of the local health care systems for a variety of essential medicines, such as anti-coagulant, anti-HIV and anti-epileptic drugs.
If you are a member of PGRN.org you can apply to feature your PGx related research project on this site.
On January 18th-19th 2017, the PGRN-RIKEN Meeting was held in Yokohama, Japan. The meeting brought together researchers from the US, and Japan, as well as other countries, to discuss PGRN-RIKEN collaboration research results. Before the PGRN-RIKEN meeting, PGRN members were invited to submit proposals for RIKEN to perform either targeted sequencing or genome wide genotyping on their DNA samples from pharmacogenomics studies of well-phenotypes patients. The proposals were rigorously peer-reviewed by Principal Investigators of the PGRN-RIKEN collaboration. Only top scored projects were selected for genomewide genotyping or targeted sequencing. At the meeting, three new proposals were considered for genotyping. In addition four investigators presented research in progress of PGRN-RIKEN collaborative research studies. Finally, invited speakers included: Dr. Kazuhiko Yamamoto, from RIKEN Institute, who gave an overview of functional genetics of autoimmune diseases; Dr. Henk-Jan Guchelaar, from Leiden University Medical Center, who gave an overview on the design and implementation strategy of the Ubiquitous Pharmacogenomics Consortium; and Dr. Mark Ratain<>, co-Leader of the PGRN-RIKEN collaboration, who presented the University of Chicago's experience with preemptive pharmacogenomics, the “1200 Patients Project." The PGRN-RIKEN group meets twice a year, alternating between San Francisco and Tokyo. We will keep you posted here about submitting proposals for the next meeting in San Francisco.
Four Genes Reached Genomewide Association Study Significance Level on Intolerance of Angiotensin-Converting Enzyme Inhibitors
The PREDICTION-ADR Consortium conducted a meta-analysis GWAS to identify genetic determinants for Angiotensin-Converting Enzyme (ACE) Inhibitors intolerance in European populations (972 cases and 4189 controls) (PMID: 28030426). ACE inhibitors are commonly used to treat high blood pressure, heart failure and kidney disease. The main reasons for intolerance to the drug are persistent dry cough and life-threatening angio-oedema of the lips, tongue and upper airway. The group identified four genes with eight SNPs reaching genomewide significance (p<5x10-8). These genes are RBFOX3, GABRG2, SH2B1 and MBOAT1. GABRG2 is a member of the GABA-A receptor gene family, and play a major role in the benzodiazepine pathway. The group speculates that GABRG2 could be an interesting target due to the supporting evidence of its role in susceptibility to cough. Unfortunately, the group did not investigate the role of significantly associated genes nor exploring the functional roles of the SNPs within the genes.
Launched in 2014, the NIH Common Fund’s Illuminating the Druggable Genome (IDG) Program enables researchers to explore understudied proteins with the potential to be modified by medicines. In November, a request for grant applications moved IDG into its implementation phase. The program plans to allocate $54 million to advance research through the development, broad dissemination, and use of community scientific resources to study human proteins for which publicly available information or active research is lacking. IDG aims to catalyze the discovery of novel biology, with a particular focus on understudied members of the protein kinase, ion channel, and non-olfactory G-protein-coupled receptor (GPCR) families. The program is administered by NIDDK, the National Center for Advancing Translational Sciences and the National Cancer Institute: https://commonfund.nih.gov/idg/index
This one-day symposium is organized by the Clinical Pharmacogenetics Implementation Consortium (CPIC ® ) as part of the Pharmacogenomics Research Network (PGRN) Symposium. Talks by world-class speakers from high profile academic, hospital and health service organizations will highlight how the USA and other countries are leading the way in strategizing the implementation of pharmacogenetics. This event will provide a great opportunity to meet with speakers from all sectors involved in pharmacogenetic implementation who will share their strategies and perspectives and provide tough examples for implementation. Further details and the registration link will soon be available here.
Location: Washington Marriott Wardman Park, Washington, DC, USA
Three main sessions and two panel discussions (see full agenda here):
Session I: Strategies for Implementing Pharmacogenetics
The Hub team