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State of the industry for drug–diagnostic development: challenge and change on the path to precision medicine

14.06.2016 | Christopher-Paul Milne; Joshua Cohen; Ranjana Chakravarthy; Josephine Awatin, Personalized Medicine, 2016

Four challenges to the adoption of personalized medicine were identified in the mid-2000s – adherence to the blockbuster model, the lack of a supportive regulatory environment, the dysfunctional payment system and physician barriers. In this article, we report on our study findings based on ...


Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

14.06.2016 | Magdaléna Neřoldová; Viktor Stránecký; Kateřina Hodaňová; Hana Hartmannová; Lenka Piherová; Anna Přistoupilová; Lenk ..., Pharmacogenomics, 2016

Aim: Genetic variants affecting statin uptake, metabolism or predisposing to muscular diseases may confer susceptibility to statin-induced myopathy. Besides the SLCO1B1 rs4149056 genotype, common genetic variants do not seem to determine statin-associated myopathy. Here we aimed to address the ...


Crystal Genetics, Inc.

14.06.2016 | Bahram G Kermani, Personalized Medicine, 2016

Crystal Genetics, Inc. is an early-stage genetic test company, focused on achieving the highest possible clinical-grade accuracy and comprehensiveness for detecting germline (e.g., in hereditary cancer) and somatic (e.g., in early cancer detection) mutations. Crystal's mission is to significantly ...


Epidemiology of driver mutations in lung cancer in a German tertiary hospital in patients with testing indication

14.06.2016 | Verena Schildgen; Jessica Lüsebrink; Oliver Schildgen; Erich Stoelben; Michael Brockmann, Personalized Medicine, 2016

Background: KRAS, BRAF, EGFR and ALK-mutation testing is a prerequisite for non-small-cell lung cancer treatments, but there remains limited epidemiological information about such mutations in German cohorts. Materials & methods: Between February 2010 and June 2015, a total of 1080 tumor samples ...


Association of IL-6 polymorphisms with chronic obstructive pulmonary disease risk: meta-analysis of genetic association, gene expression and expression quantitative trait locus analysis

14.06.2016 | Liyan Dou; Baiquan Yu; Kaiyu Han; Mochao Xiao; Yaxin Liu; Fuzhen Lv, Personalized Medicine, 2016

Aim: IL-6 might play an important role in the mechanism of chronic obstructive pulmonary disease (COPD). This study assessed the relationship of rs1800796 and rs1800797 of IL-6 with COPD. Materials & methods: We conducted meta-analysis and gene expression analysis using published datasets to ...


Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants

14.06.2016 | Liis Leitsalu; Helene Alavere; Sébastien Jacquemont; Anneli Kolk; Anne M Maillard; Anu Reigo; Margit Nõukas; Alexand ..., Personalized Medicine, 2016

Background: Procedural guidelines for disclosure of incidental genomic information are lacking. Methods: We introduce a method and evaluated the impact of returning results to population biobank participants with 16p11.2 copy number variants, which are commonly associated with neurodevelopmental ...


Pharmacogenetic considerations in the treatment of Alzheimer's disease

13.06.2016 | Ramón Cacabelos; Clara Torrellas; Oscar Teijido; Juan Carlos Carril, Pharmacogenomics, 2016

The practical pharmacogenetics of Alzheimer's disease (AD) is circumscribed to acetylcholinesterase inhibitors (AChEIs) and memantine. However, pharmacogenetic procedures should be applied to novel strategies in AD therapeutics including: novel AChEIs and neurotransmitter regulators, anti-Aβ ...


Biomarker discovery using dry-lab technologies and high-throughput screening

09.06.2016 | Hao-Teng Chang, Biomarkers in Medicine, 2016

Biomarkers in Medicine June 2016, Vol. 10, No. 6, Pages 559-561.


MTHFR gene polymorphisms and methotrexate toxicity in adult patients with hematological malignancies: a meta-analysis

08.06.2016 | Ming Zhao; Liang Liang; Liwei Ji; Di Chen; Yatong Zhang; Yuanchao Zhu; Alessia Ongaro, Pharmacogenomics, 2016

Background: MTHFR gene polymorphisms has been shown to be associated with methotrexate (MTX) toxicity in adult hematological malignancies; however, the results remain inconclusive. Materials & methods: To examine the role of common MTHFR variants in MTX toxicity prediction, we performed a ...


Pharmacogenetic-based strategy using de novo tacrolimus once daily after kidney transplantation: prospective pilot study

08.06.2016 | Martine De Meyer; Vincent Haufroid; Nada Kanaan; Tom Darius; Antoine Buemi; Luc De Pauw; Djamila Chaïb Eddour; Pierr ..., Pharmacogenomics, 2016

Aim: The once daily tacrolimus formulation (Tac-OD) has been associated with better patient adherence and low variability in exposure. Patients carrying the CYP3A5*1 allele show accelerated clearance of Tac. Authors prospectively evaluate a simplified strategy for Tac-OD administration. Patients ...


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