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Clinical omics

Geny Piro, Carmine Carbone, Raffaela Santoro, Giampaolo Tortora, Davide Melisi
Introduction Esophageal and esophago-gastric junction (EGJ) adenocarcinomas remain a major health problem worldwide with a worryingly increasing incidence. Recent trials indicate survivals benefit for preoperative or perioperative chemoradiotherapy compared to surgery alone. Beside standard chemoradiotherapy regimens, new therapeutic approaches with targeted therapies have been proposed for the treatment of resectable disease. However, clinical outcomes remain extremely poor due to drug resistance phenomena...
March 16, 2018: Expert Review of Molecular Diagnostics
Margarita Villar, Lourdes Mateos-Hernandez, Jose de la Fuente
BACKGROUND: Why an autoimmune disease that is the main cause of the acute neuromuscular paralysis worldwide has not yet a well-characterized cause or an effective treatment? The existence of different clinical variants for the Guillain-Barré syndrome (GBS) coupled with the fact that a high number of pathogens can cause an infection that sometimes, but not always, precedes the development of the syndrome, confers a high degree of uncertainty for both prognosis and treatment. In the post-genomic era, the development of omics technologies for the high-throughput analysis of biological molecules is allowing the characterization of biological systems in a degree of depth unimaginable before...
March 14, 2018: Current Medicinal Chemistry
Lokmane Chebouba, Bertrand Miannay, Dalila Boughaci, Carito Guziolowski
BACKGROUND: During the last years, several approaches were applied on biomedical data to detect disease specific proteins and genes in order to better target drugs. It was shown that statistical and machine learning based methods use mainly clinical data and improve later their results by adding omics data. This work proposes a new method to discriminate the response of Acute Myeloid Leukemia (AML) patients to treatment. The proposed approach uses proteomics data and prior regulatory knowledge in the form of networks to predict cancer treatment outcomes by finding out the different Boolean networks specific to each type of response to drugs...
March 8, 2018: BMC Bioinformatics
Brunella Costanza, Andrei Turtoi, Akeila Bellahcène, Touko Hirano, Olivier Peulen, Arnaud Blomme, Vincent Hennequière, Eugene Mutijima, Jacques Boniver, Marie-Alice Meuwis, Claire Josse, Benjamin Koopmansch, Karin Segers, Takehiko Yokobori, Karim Fahmy, Marc Thiry, Carla Coimbra, Nancy Garbacki, Alain Colige, Dominique Baiwir, Vincent Bours, Edouard Louis, Olivier Detry, Philippe Delvenne, Masahiko Nishiyama, Vincent Castronovo
The identification of diagnostic and prognostic biomarkers from early lesions, measurable in liquid biopsies remains a major challenge, particularly in oncology. Fresh human material of high quality is required for biomarker discovery but is often not available when it is totally required for clinical pathology investigation. Hence, all OMICs studies are done on residual and less clinically relevant biological samples. Here after, we present an innovative, simple, and non-destructive, procedure named EXPEL that uses rapid, pressure-assisted, interstitial fluid extrusion, preserving the specimen for full routine clinical pathology investigation...
February 13, 2018: Oncotarget
Alma L Saucedo-Yanez, Marlene M Perales-Quintana, David Paniagua-Vega, Concepcion Sanchez-Martinez, Paula Cordero-Perez, Noemi Waskman Minsky
Chronic kidney disease (CKD) is a progressive condition characterized by a permanent and irreversible loss of renal function. In accordance to international guidelines, CKD clinical diagnosis methods are based on creatinine and albumin levels and glomerular filtration rate. Unfortunately, these parameters are scarcely affected in early stages, and its inherent intrinsic variability only allows for the identification of intermediate and advanced stages, when life expectancy has become shorter and treatment poses a significant financial investment...
March 6, 2018: Current Medicinal Chemistry
Christina Kraniotou, Vasiliki Karadima, George Bellos, George Th Tsangaris
The global incidence of metabolic disorders like type 2 diabetes mellitus (DM2) has assumed epidemic proportions, leading to adverse health and socio-economic impacts. It is therefore of critical importance the early diagnosis of DM2 patients and the detection of those at increased risk of disease. In this respect, Precision Medicine (PM) is an emerging approach that includes practices, tests, decisions and treatments adapted to the characteristics of each patient. With regard to DM2, PM manages a wealth of "omics" data (genomic, metabolic, proteomic, environmental, clinical and paraclinical) to increase the number of clinically validated biomarkers in order to identify patients in early stage even before the prediabetic phase...
March 5, 2018: Journal of Proteomics
Miaolong Lu, Xianquan Zhan
Cancer with heavily economic and social burden is the hot point in the field of medical research. Some remarkable achievements have been made; however, the exact mechanisms of tumor initiation and development remain unclear. Cancer is a complex, whole-body disease that involves multiple abnormalities in the levels of DNA, RNA, protein, metabolite and medical imaging. Biological omics including genomics, transcriptomics, proteomics, metabolomics and radiomics aims to systematically understand carcinogenesis in different biological levels, which is driving the shift of cancer research paradigm from single parameter model to multi-parameter systematical model...
March 2018: EPMA Journal
B K B Lee, C P Gan, J K Chang, J L Tan, M Z Fadlullah, Z A Abdul Rahman, S S Prime, J S Gutkind, C S Liew, T F Khang, A C Tan, S C Cheong
Head and neck cancer (HNC)-derived cell lines represent fundamental models for studying the biological mechanisms underlying cancer development and precision therapies. However, mining the genomic information of HNC cells from available databases requires knowledge on bioinformatics and computational skill sets. Here, we developed a user-friendly web resource for exploring, visualizing, and analyzing genomics information of commonly used HNC cell lines. We populated the current version of GENIPAC with 44 HNC cell lines from 3 studies: ORL Series, OPC-22, and H Series...
March 1, 2018: Journal of Dental Research
Nicolas Albin, Anne Mc Leer, Linda Sakhri
In recent years, high-throughput sequencing techniques have been developed for cancerology and many clinical trials are currently structured around biomarkers that can guide specific treatment choices. This approach is characteristic of precision medicine, which is actually a concept initiated several decades ago with, for example, retinoic acid in promyelocytic leukemia. This paper will review the different types of molecular alterations and « -omics » biological analyses, bioinformatics tools, coupled drug/biomarkers already validated, the ethical issues of whole genomic sequencing of an individual as part of an inclusion in a clinical trial and finally the first results of precision medicine trials...
February 28, 2018: Bulletin du Cancer
Valeria D'Argenio
Recent and rapid technological advances in molecular sciences have dramatically increased the ability to carry out high-throughput studies characterized by big data production. This, in turn, led to the consequent negative effect of highlighting the presence of a gap between data yield and their analysis. Indeed, big data management is becoming an increasingly important aspect of many fields of molecular research including the study of human diseases. Now, the challenge is to identify, within the huge amount of data obtained, that which is of clinical relevance...
March 2, 2018: High Throughput
Niloufar Farzan, Susanne J Vijverberg, Michael Kabesch, Peter J Sterk, Anke H Maitland-van der Zee
Asthma is a complex multifactorial disease and it is the most common chronic disease in children. There is a high variability in response to asthma treatment, even in patients with good adherence to maintenance treatment, and a correct inhalation technique. Distinct underlying disease mechanisms in childhood asthma might be the reason of this heterogeneity. A deeper knowledge of the underlying molecular mechanisms of asthma has led to the recent development of advanced and mechanism-based treatments such as biologicals...
March 1, 2018: Pediatric Pulmonology
Wei-Kai Wu, Chieh-Chang Chen, Suraphan Panyod, Rou-An Chen, Ming-Shiang Wu, Lee-Yan Sheen, Shan-Chwen Chang
Although great interest has been displayed by researchers in the contribution of gut microbiota to human health, there is still no standard protocol with consensus to guarantee the sample quality of metagenomic analysis. Here we reviewed existing methodology studies and present suggestions for optimizing research pipeline from fecal sample collection to DNA extraction. First, we discuss strategies of clinical metadata collection as common confounders for microbiome research. Second, we propose general principles for freshly collected fecal sample and its storage and share a DIY stool collection kit protocol based on the manual procedure of Human Microbiome Project (HMP)...
February 25, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Radhe Mohan, Kathryn D Held, Michael D Story, David Grosshans, Jacek Capala
In April 2016, the National Cancer Institute hosted a multidisciplinary workshop to discuss the current knowledge of the radiobiological aspects of charged particles used in cancer therapy to identify gaps in that knowledge that might hinder the effective clinical use of charged particles and to propose research that could help fill those gaps. The workshop was organized into 10 topics ranging from biophysical models to clinical trials and included treatment optimization, relative biological effectiveness of tumors and normal tissues, hypofractionation with particles, combination with immunotherapy, "omics," hypoxia, and particle-induced second malignancies...
March 15, 2018: International Journal of Radiation Oncology, Biology, Physics
Musaddique Hussain, Chengyun Xu, Mashaal Ahmad, Abdul Majeed, Meiping Lu, Xiling Wu, Lanfang Tang, Ximei Wu
Despite 50 years of extensive research, no definite drug is currently available to treat acute respiratory distress syndrome (ARDS), and the supportive therapies remain the mainstay of treatment. To improve drug development for ARDS, researchers need to deeply analyze the "omics" approaches, reevaluate the suitable therapeutic targets, resolve the problems of inadequate animal modeling, develop the strategies to reduce the heterogeneity, and reconsider new therapeutic and analytical approaches for better designs of clinical trials...
February 27, 2018: Clinical Pharmacology and Therapeutics
Michele Patrizii, Monica Bartucci, Sharon R Pine, Hatem E Sabaawy
Despite substantial effort and resources dedicated to drug discovery and development, new anticancer agents often fail in clinical trials. Among many reasons, the lack of reliable predictive preclinical cancer models is a fundamental one. For decades, immortalized cancer cell cultures have been used to lay the groundwork for cancer biology and the quest for therapeutic responses. However, cell lines do not usually recapitulate cancer heterogeneity or reveal therapeutic resistance cues. With the rapidly evolving exploration of cancer "omics," the scientific community is increasingly investigating whether the employment of short-term patient-derived tumor cell cultures (two- and three-dimensional) and/or patient-derived xenograft models might provide a more representative delineation of the cancer core and its therapeutic response...
2018: Frontiers in Oncology
Justin Bussery, Leslie-Alexandre Denis, Benjamin Guillon, Pengfeï Liu, Gino Marchetti, Ghita Rahal
We describe the genesis, design and evolution of a computing platform designed and built to improve the success rate of biomedical translational research. The eTRIKS project platform was developed with the aim of building a platform that can securely host heterogeneous types of data and provide an optimal environment to run tranSMART analytical applications. Many types of data can now be hosted, including multi-OMICS data, preclinical laboratory data and clinical information, including longitudinal data sets...
February 13, 2018: Computers in Biology and Medicine
Konrad J Karczewski, Michael P Snyder
Advances in omics technologies - such as genomics, transcriptomics, proteomics and metabolomics - have begun to enable personalized medicine at an extraordinarily detailed molecular level. Individually, these technologies have contributed medical advances that have begun to enter clinical practice. However, each technology individually cannot capture the entire biological complexity of most human diseases. Integration of multiple technologies has emerged as an approach to provide a more comprehensive view of biology and disease...
February 26, 2018: Nature Reviews. Genetics
Eugene P Rhee
Advances in technology and computing now permit the high-throughput analysis of multiple domains of biological information, including the genome, transcriptome, proteome, and metabolome. These omics approaches, particularly comprehensive analysis of the genome, have catalyzed major discoveries in science and medicine, including in nephrology. However, they also generate large complex data sets that can be difficult to synthesize from a clinical perspective. This article seeks to provide an overview that makes omics technologies relevant to the practicing nephrologist, framing these tools as an extension of how we approach patient care in the clinic...
February 23, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Anuli Christiana Uzozie, Ruedi Aebersold
Remarkable advances in quantitative mass spectrometry have shifted the focus of proteomics from the characterization of protein expression profiles to detailed investigations on the spatial and temporal organization of the proteome. Demands for precision therapy and personalized medicine are challenged by heterogeneity in the larger population, which have led to drawbacks in biomarker performance and therapeutic efficacy. The consistent adaptation of the cellular proteome in response to distinctive signals defines a phenotype...
February 21, 2018: Journal of Proteomics
Min-Sun Jin, Hyebin Lee, Jongmin Woo, Seongmin Choi, Mi Sol Do, Kwangsoo Kim, Min Ji Song, Youngsoo Kim, In Ae Park, Dohyun Han, Han Suk Ryu
PURPOSE: Secretory carcinoma (SC) of the breast is defined as an indolent tumor but is still categorized into a basal-like triple-negative breast cancer (BL-TNBC) subgroup that generally shows aggressive behaviour according to the current classification. Despite the unique clinical behaviour of SC, molecular characteristics that reflect biological behaviours of SC remain largely unknown. EXPERIMENTAL DESIGN: We employed a combinatorial approach of whole-exome sequencing and mass spectrometry-based in-depth quantitative proteomics to determine the entire molecular landscape of SC using three SC formalin-fixed paraffin-embedded (FFPE) tissues...
February 24, 2018: Proteomics. Clinical Applications
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