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Ahead-of-Schedule
Epigenome-Wide Association Studies (EWAS) in Cancer
Mukesh Verma
[Abstract] [FULL-TEXT INQUIRY] [BSP/CG/E-Pub/00001]
The Pharmacogenomic HLA biomarker associated to adverse Abacavir reactions: Comparative Analysis of Different Genotyping Methods
Laura Stocchi, Raffaella Cascella, Stefania Zampatti, Antonella Pirazzoli, Giuseppe Novelli and Emiliano Giardina
[Abstract] [FULL-TEXT INQUIRY] [BSP/CG/E-Pub/00002]
Identification of pharmacological targets in Amyotrophic Lateral Sclerosis through genomic analysis of deregulated genes and pathways
Sabrina Paratore, Salvatore Pezzino and Sebastiano Cavallaro
[Abstract] [FULL-TEXT INQUIRY] [BSP/CG/E-Pub/00003]
Abstracts
Epigenome-Wide Association Studies (EWAS) in Cancer
Mukesh Verma
[FULL-TEXT INQUIRY] [BSP/CG/E-Pub/00001]
After completion of the human genome, genome-wide association studies were conducted to identify single nucleotide polymorphisms (SNPs) associated with cancer initiation and progression. Most of the studies identified SNPs that were located outside the coding region, and the odds ratios were too low to implement in clinical practice. Although the genome gives information about genome sequence and structure, the human epigenome provides functional aspects of the genome. Epigenome-wide association studies (EWAS) provide an opportunity to identify genome-wide epigenetic variants that are associated with cancer. However, there are problems and issues in implementing EWAS to establish an association between epigenetic profiles and cancer. Few challenges include selection and handling of samples, choice of population and sample size, accurate measurement of exposure, integrating data, and insufficient information about the role of repeat sequences. The current status of EWAS, challenges in the field, and their potential solutions are discussed in this article.
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The Pharmacogenomic HLA biomarker associated to adverse Abacavir reactions: Comparative Analysis of Different Genotyping Methods
Laura Stocchi, Raffaella Cascella, Stefania Zampatti, Antonella Pirazzoli, Giuseppe Novelli and Emiliano Giardina
[FULL-TEXT INQUIRY] [BSP/CG/E-Pub/00002]
Many pharmacogenomic biomarkers (PGBM) were identified and translated into clinical practice, affecting the usage of drugs via label updates. In this context, abacavir is one of the most brilliant examples of pharmacogenetic studies translated into clinical practice. Pharmacogenetic studies have revealed that abacavir HSRs are highly associated with the major histocompatibility complex class I. Large studies established the effectiveness of prospective HLA-B*57:01 screening to prevent HSRs to abacavir. Accordingly to these results the abacavir label has been modified: the European Medicines Agency (EMA) and the FDA recommend/suggested that the administration of abacavir must be preceded by a specific genotyping test. The HLA locus is extremely polymorphic, exhibiting many closely related alleles, making it difficult to discriminate HLA-B*57:01 from other related alleles, and a number of different molecular techniques have been developed recently to detect the presence of HLA-B*57:01. In this review, we provide a summary of the available techniques used by laboratories to genotype HLA-B*57:01, outlining the scientific and pharmacoeconomics pros and cons.
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Identification of pharmacological targets in Amyotrophic Lateral Sclerosis through genomic analysis of deregulated genes and pathways
Sabrina Paratore, Salvatore Pezzino and Sebastiano Cavallaro
[FULL-TEXT INQUIRY] [BSP/CG/E-Pub/00003]
Amyotrophic Lateral Sclerosis (ALS) is a progressive and disabling neurodegenerative disorder characterized by upper and lower motor neuron loss, leading to respiratory insufficiency and death after 3-5 years. Riluzole is currently the only FDA approved drug for ALS, but it has only modest effects on survival. The majority of ALS cases are sporadic and probably associated to a multifactorial etiology. With the completion of genome sequencing in humans and model organisms, together with the advent of DNA microarray technology, the transcriptional cascades and networks underlying neurodegeneration in ALS are being elucidated providing new potential pharmacological targets. The main challenge now is the effective screening of the myriad of targets to identify those with the most therapeutic utility. The present review will illustrate how the identification, prioritization and validation of preclinical therapeutics can be achieved through genomic analysis of critical pathways and networks deregulated in ALS pathology.
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