Tuesday, September 22, 2015

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 reticulum of muscle cells (and endoplasmic reticulum in non-muscle cells) and is critical to excitation-contraction coupling, the process by which an electrical signal is translated into a muscle contraction. RYR1 is the primary locus for malignant hyperthermia susceptibility (MHS), a potentially fatal pharmacogenetic condition triggered by volatile anesthetics, alone or in combination with a depolarizing neuromuscular blocking agent, such as succinylcholine. There is limited evidence that variants in RYR1 may also be associated with statin-induced myopathies. The VIP summary also discusses how advances in sequencing have improved MHS diagnoses in otherwise healthy individuals. 

Read the VIP summary below:

Saturday, September 19, 2015

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 for policies affecting patient recruitment, specimen collection and storage, technology infrastructure, operations, privacy, security and sharing of data between researchers and cohort participants. A notable recommendation is the use of arrays that prioritize the inclusion of known pharmacogenetic variants.  The report also recommends including anyone who is willing to participate in the PMI, and emphasizes the importance of having a diverse cohort that is representative of the general population of the United States.The ACD unanimously agreed to accept the PMI Working Group’s report, and according to Dr. Russ Altman, a member of the ACD, "Direct participation is clearly the alternative in this age of consumer empowerment.” 

Read more about the PMI Working Group’s report, including an interview with Dr. Russ Altman with GenomeWeb below:


Wednesday, September 2, 2015

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 partnership between eMERGE and the Pharmacogenomics Research Network (PGRN) has successfully deployed a next-generation sequencing platform called PGRN-seq to sequence very important pharmacogenes in patients across eMERGE sites with a goal of integrating pharmacogenetic genotypes into electronic health records, as well as the associated clinical decision support. Among the awardees of the NIH grants were researchers at Vanderbilt University, an eMERGE site, led by Dan Roden and Joshua Denny. The group will investigate the impact of rare variants on health and drug response as well as expand the Pharmacogenomics Research for Enhanced Decision in Care and Treatment (PREDICT) pipeline. 

Read more about the NIH awards here:


Read more about the eMERGE Network here:

Read more about eMERGE PGx here: