Archived Content

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Partner PGx Organizations

UK Pharmacogenetics & Stratified Medicine Network (UK-PSMN) ​

A UK based network dedicated to developing collaborative partnerships between academic researchers, healthcare professionals, industry partners, regulatory bodies and patients to synergize research into stratified/ personalized / precision medicine across the UK, and internationally, to support its adoption into the clinic.

Ubiquitous Pharmacogenomics (U-PGx)

The U-PGx consortium will address major challenges and obstacles for implementation of PGx testing in patient care, taking into account the diversity of healthcare systems and citizens across Europe.

Research Pages

African American Pharmacogenomics

The Perera laboratory focuses on pharmacogenomics (using a patient's genome to predict drug response) in minority populations. We briefly describe two of our major projects below as: Genomics of Drug Metabolism and the African American Cardiovascular Pharmacogenomics Consortium (ACCOuNT)..

Clinical Implementation of Pharmacogenomics

The Center for Personalized Therapeutics aims to provide personalized care through point-of-care availability of patient-specific pharmacogenomic information to improve prescribing. Patients across the medical center undergo preemptive genotyping for actionable genetic polymorphisms, and providers receive results with accompanying clinical decision-support. Robust adoption and utilization has led to continual program expansion..

Integrating Pharmacogenetics in Clinical Care

The Center for Personalized Therapeutics aims to provide personalized care through point-of-care availability of patient-specific pharmacogenomic information to improve prescribing. Patients across the medical center undergo preemptive genotyping for actionable genetic polymorphisms, and providers receive results with accompanying clinical decision-support. Robust adoption and utilization has led to continual program expansion..

The National Laboratory for the Genetics of Israeli Populations (NLGIP)

The Center for Personalized Therapeutics aims to provide personalized care through point-of-care availability of patient-specific pharmacogenomic information to improve prescribing. Patients across the medical center undergo preemptive genotyping for actionable genetic polymorphisms, and providers receive results with accompanying clinical decision-support. Robust adoption and utilization has led to continual program expansion..

Pharmacogenetics Reference Material Resource GeT-RM PGx

​Pharmacogenetic (PGx) testing is increasingly available from clinical laboratories. However, only a limited number of quality control and other reference materials are currently available to support clinical testing. Additionally, well-characterized samples are a critical resource for development of PGx tools and methods. To address this need, the Centers for Disease Control and Prevention–based Genetic Testing Reference Material Coordination Program, in collaboration with Coriell Cell Repositories, Illumina, and members of the pharmacogenetic testing community, have characterized 137 genomic DNA samples for multiple genes commonly genotyped by pharmacogenetic testing assays. Star allele calls, as well as NGS data, are publically available for most samples.

Biomarkers for Metformin Response

Metformin, a biguanide, is used as first-line therapy to treat patients with type 2 diabetes (T2D), yet over 35% of patients on metformin monotherapy fail to achieve acceptable glycemic control. The major goal of our study is to identify the genetic loci and pathways that confer nonresponse to metformin in a large multi-ethnic cohort of T2D patients on metformin. Our second goal is to identify rare causal variants that underlie variation in response to metformin through detailed cellular and clinical studies.

Pharmacogenomics of Microtubule-targeting Agents

The Kroetz lab seeks to understand how genetic variation influences a patient’s risk of developing sensory peripheral neuropathy during chemotherapy. The main goal of our pharmacogenomics approach is to uncover clinically relevant genetic associations to identify sensory peripheral neuropathy risk and define the pathophysiological mechanisms behind such risk.

PEGASUS: Personalizing Emergency/Acute Therapeutics ​Utilizing Systems Biology

The global objective PEGASUS Research Program is to improve drug effectiveness and safety in common acute care conditions. We use phenotypic data from our electronic health record and link this data to pharmacogenomic and metabolomic data generated from biological samples to discover new mechanisms of drug effectiveness and safety.

Pharmacogenomics of antipsychotic-induced ​weight gain & metabolic syndrome

Antipsychotic-induced weight gain (AIWG) is a common and severe side effect which can result in obesity and related medical conditions (Lett et al., Molecular Psychiatry 2012). The primary goal of our study is to develop a genetic risk model to predict AIWG, by combining hypothesis-free, genome-wide association study (GWAS), pathway analyses and Machine Learning in large, collaborative samples. Our secondary goal is to investigate the clinical relevance of AIWG risk models by examining weight gain, health care utilization, and treatment costs. Early identification of those at risk will facilitate the development of preventive interventions and guide clinical treatment algorithms to advance precision medicine.

Pharmacogenomics of Chemotherapeutic Toxicities

The Dolan lab is focused on improving the quality of life of cancer patients through the identification of genetic variants associated with risk for severe and persistent toxicities following chemotherapy (i.e. peripheral neuropathy, ototoxicity). To this end, they are involved in clinical genome wide association studies and developing preclinical models to elucidate the biochemical and cellular impact of genes associated with chemotherapeutic toxicity. There is a serious need for a relevant and genetically diverse human cellular model for mechanistic studies of CIPN and the development of effective neuroprotectants. Thus, induced-pluripotent stem cell derived neurons are being developed as a cellular model system to study neuropathic damage.

Pharmacogenomics of Statin Therapy Center

The overall objective of the Center "Pharmacogenomics of Statin Therapy" (POST) is to apply genomic, transcriptomic, and metabolomic analyses, together with studies in cellular and animal models, and innovative informatic tools, to identify and validate biomarkers for efficacy of statin drugs in reducing risk of cardiovascular disease (CVD), and for adverse effects of statins, specifically myopathy and type 2 diabetes.

Center for Precision Medicine in Leukemia (CPML)

Acute lymphoblastic leukemia (ALL) is the most common malignancy in children and is very responsive to medications, but outcomes are worse in adults. The CPML is a multidisciplinary effort to identify the genetic and non-genetic risk factors for ALL relapse and for serious adverse effects of ALL medications in children and adults, to elucidate the mechanisms underlying these risk factors, and to build models to implement precision medicine approaches to match patients to medication regimens to maximize cure and minimize adverse effects.

Predicting Drug Action

Project 1: A new paradigm for identifying patients and drugs at risk for QT prolongation
Project 2: Understanding and preventing ​HLA-associated drug reactions
​Project 3: Precision phenomics to personalize drug therapy

Communities

Metformin Genetics PLUS Consortium

​The Metformin Genetics Consortium (MetGen) was initiated in 2013 with the goal of advancing research on metformin, a biguanide, in pharmacogenomics and precision medicine, and was later expanded to include additional anti-diabetic drugs, MetGen PLUS. Metformin is among the world’s most widely prescribed drugs and is first-line therapy for type 2 diabetes. In addition, the drug is used off-label and is in clinical trials for other conditions such as prevention of tumor recurrence and various neurodegenerative diseases. Currently, MetGen PLUS is co-led by Drs. Ewan Pearson, University of Dundee, and Kathy Giacomini, University of California San Francisco. MetGen PLUS is poised to assess all aspects of the pharmacogenomics of metformin and other anti-diabetic medications in multiple ethnic populations.



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