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Genetics and exercise: an introduction
Published in Adam P. Sharples, James P. Morton, Henning Wackerhage, Molecular Exercise Physiology, 2022
Claude Bouchard, Henning Wackerhage
However, there are reasons to be optimistic. Advances in the human genome sequence (www.ncbi.nlm.nih.gov/Genbank or www.ebi.ac.uk.embl), DNA sequence variability (www.1000.genomes.org), the structure and functions of noncoding DNA (ENCODE) (www.encodeproject.org), the role of genotype on tissue specific gene expression (GTEx) (https://commonfund.nih.gov/gtex), high-throughput technologies, GWASs with large panels of SNPs, gene expression profiling, DNA methylation and histone profiling, and screening of the proteome and metabolome are giving more fire power to the efforts aimed at understanding the connection between genotype and phenotype. Moreover, computational biology and bioinformatics combined with the availability of online genomic resources provided by non-profit scientifically driven organizations are improving the odds of success to a considerable extent. The task is gigantic, which we did not realize in the beginning, but there are reasons to believe that progress is possible.
Tapping into the Formalin-Fixed Paraffin-Embedded (FFPE) Tissue Gold Mine for Individualization of Breast Cancer Treatment
Published in Brian Leyland-Jones, Pharmacogenetics of Breast Cancer, 2020
Mark Abramovitz, Brian Leyland-Jones
Gene expression profiling has become an important aspect in prediction, prognosis, and cancer modeling. Gene signatures resulting from expression profiling studies have the potential to define cancer subtypes, predict the clinical outcome (recurrence of disease) and response to specific therapies, and analyze oncogenic pathways (20–23). Investigations of gene pathways and interactions indicated by gene signatures that are truly predictive of the clinical endpoints are necessary to understand the biology underlying this predictive value. More importantly, when combined with clinical and demographic factors, multiple forms of molecular (protein- and gene-based) data can provide information that has the potential to identify unique characteristics of individuals and so lead to individualized treatment strategies (24,25).
Toxicogenomics
Published in Frank A. Barile, Barile’s Clinical Toxicology, 2019
Anirudh J. Chintalapati, Zacharoula Konsoula, Barile Frank A.
Pharmacogenomics is associated with the detection and determination of the genome (DNA) and its products (RNA and proteins) as they are linked to drug response. Pharmacogenomics involves the orderly evaluation of how chemical compounds alter the complete expression motif in defined tissues of interest. For instance, gene expression profiling (employing a variety of microarray technologies) has enabled the establishment of an explicit subset of genes that may be represented distinctly in diseased and healthy tissues.
Overview of gene expression techniques with an emphasis on vitamin D related studies
Published in Current Medical Research and Opinion, 2023
Jeffrey Justin Margret, Sushil K. Jain
During cell development, certain sets of genes express proteins that allow them to communicate with neighboring cells to coordinate development in multicellular organisms. All living organisms make use of this process, known as gene expression, to create the building blocks of life from genetic information1. The exceedingly complex process of gene expression enables cells to control their size, shape, and functions as it involves the interactions among DNA, RNA, and proteins, as well as with the environment. The phenotype of an organism is determined by how its genes are expressed2 and regulated at many levels. The protein expressed determines the function of the cell, and each cell type has a unique gene expression profile. Thus, gene expression profiling is a fundamental tool with which to investigate changes in the expression at a cellular level, thus unraveling the complexity of biological systems and the effects of mutations that result in disease states or pathobiology.
Monitoring immunomodulation in patients with sepsis
Published in Expert Review of Molecular Diagnostics, 2021
Evdoxia Kyriazopoulou, Evangelos J. Giamarellos-Bourboulis
The failure of trials to improve sepsis outcomes allowed understanding the heterogeneity of sepsis and highlighted the need for adaptive strategies in the design of clinical trials to maximize the potential effect of drugs under investigation. These strategies include but are not restricted to Bayesian models, dose-finding designs, double-dummy or multiple-drug designs as well as biomarker-guided designs [114]. Although rigorous and expensive, biomarker-guided trials have gained ground in the field of sepsis as they allow investigators to stratify patients’ needs and depict subgroups that would most benefit from a drug. This review discusses biomarkers for the monitoring of the immune state in sepsis. Ongoing clinical trials where biomarker guidance is used are summarized in Table 5. Lymphopenia, IL-6 levels, HLA-DR monocyte expression on circulating monocytes, and ferritin provide so far, the most robust information and serve as the main screening tools for the ongoing trials. However, gene expression profiling is constantly developing. This paves the way for adjunctive immunotherapy that has the characteristics of personalized management.
Cervical cancer risk profiling: molecular biomarkers predicting the outcome of hrHPV infection
Published in Expert Review of Molecular Diagnostics, 2020
Mariano A Molina, Ludovica Carosi Diatricch, Marina Castany Quintana, Willem JG Melchers, Karolina M Andralojc
The recent progress of the Next Generation Sequencing (NGS) field will revolutionize the molecular diagnosis of virus-related tumors like cervical cancer. Population-based screening programs need to move towards a more personalized approach, and NGS is driving this change by enabling gene expression profiling, detection of epigenetic changes as well as a wide range of molecular analyses. So far, NGS and ‘omics’ studies have had a significant impact on our understanding of the etiology of HPV-driven cancers. The integration of all these new insights into clinical practice will ultimately lead to better choices of potential biomarkers and more effective personalized treatment options, having a positive impact on both screening programs and the healthcare systems worldwide. It will give clinicians the needed support in decision making during diagnosis, and their application will result in better cost-effectiveness of health policies for cervical cancer prevention and the well-being of women.