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Genetics, genomics, translational medicine

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https://www.readbyqxmd.com/read/28057368/genomic-translational-research-paving-the-way-to-individualized-cardiac-functional-analyses-and-personalized-cardiology
#1
REVIEW
Ares Pasipoularides
For most of Medicine's past, the best that physicians could do to cope with disease prevention and treatment was based on the expected response of an average patient. Currently, however, a more personalized/precise approach to cardiology and medicine in general is becoming possible, as the cost of sequencing a human genome has declined substantially. As a result, we are witnessing an era of precipitous advances in biomedicine and bourgeoning understanding of the genetic basis of cardiovascular and other diseases, reminiscent of the resurgence of innovations in physico-mathematical sciences and biology-anatomy-cardiology in the Renaissance, a parallel time of radical change and reformation of medical knowledge, education and practice...
December 21, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/28053071/mouse-models-for-drug-discovery-can-new-tools-and-technology-improve-translational-power
#2
Aamir Zuberi, Cathleen Lutz
The use of mouse models in biomedical research and preclinical drug evaluation is on the rise. The advent of new molecular genome-altering technologies such as CRISPR/Cas9 allows for genetic mutations to be introduced into the germ line of a mouse faster and less expensively than previous methods. In addition, the rapid progress in the development and use of somatic transgenesis using viral vectors, as well as manipulations of gene expression with siRNAs and antisense oligonucleotides, allow for even greater exploration into genomics and systems biology...
December 2016: ILAR Journal
https://www.readbyqxmd.com/read/28034498/genomic-sequencing-and-precision-medicine-in-head-and-neck-cancers
#3
REVIEW
R C Hoesli, M L Ludwig, N L Michmerhuizen, A J Rosko, M E Spector, J C Brenner, A C Birkeland
Head and neck squamous cell carcinoma (HNSCC) remains a common and deadly disease. Historically, surgical and chemoradiation treatments have been met with modest success, and understanding of genetic drivers of HNSCC has been limited. With recent next generation sequencing studies focused on HNSCC, we are beginning to understand the genetic landscape of HNSCCs and are starting to identify and advance targeted options for patients. In this review, we describe current knowledge and recent advances in sequencing studies of HNSCC, discuss current limitations and future directions for further genomic analysis, and highlight the translational advances being undertaken to treat this important disease...
December 15, 2016: European Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28031973/life-as-an-early-career-researcher-interview-with-heloisa-helena-milioli
#4
Heloisa Helena Milioli
Heloisa Helena Milioli speaks to Francesca Lake, Managing Editor: Heloisa received a BSc degree in Biological Sciences (2008) from the Universidade Federal de Santa Catarina (Brazil) and obtained a MSc degree in Genetics (2011) from Universidade Federal do Paraná (Brazil). In 2011 and 2012, she worked as a lecturer and tutor in the Department of Cell Biology, Embryology and Genetics (Universidade Federal de Santa Catarina). She moved to Australia in 2012 to obtain her PhD in Biological Sciences, with emphasis on Bioinformatics, from The University of Newcastle...
June 2016: Future Science OA
https://www.readbyqxmd.com/read/28031556/advances-in-the-molecular-genetics-of-gliomas-implications-for-classification-and-therapy
#5
REVIEW
Guido Reifenberger, Hans-Georg Wirsching, Christiane B Knobbe-Thomsen, Michael Weller
Genome-wide molecular-profiling studies have revealed the characteristic genetic alterations and epigenetic profiles associated with different types of gliomas. These molecular characteristics can be used to refine glioma classification, to improve prediction of patient outcomes, and to guide individualized treatment. Thus, the WHO Classification of Tumours of the Central Nervous System was revised in 2016 to incorporate molecular biomarkers - together with classic histological features - in an integrated diagnosis, in order to define distinct glioma entities as precisely as possible...
December 29, 2016: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/27969037/animal-models-in-genomic-research-techniques-applications-and-roles-for-nurses
#6
Nicole D Osier, Lan Pham, Amanda Savarese, Kendra Sayles, Sheila A Alexander
Animal research has been conducted by scientists for over two millennia resulting in a better understanding of human anatomy, physiology, and pathology, as well as testing of novel therapies. In the molecular genomic era, pre-clinical models represent a key tool for understanding the genomic underpinnings of health and disease and are relevant to precision medicine initiatives. Nurses contribute to improved health by collecting and translating evidence from clinically relevant pre-clinical models. Using animal models, nurses can ask questions that would not be feasible or ethical to address in humans, and establish the safety and efficacy of interventions before translating them to clinical trials...
November 2016: Applied Nursing Research: ANR
https://www.readbyqxmd.com/read/27933214/integrating-next-generation-sequencing-into-clinical-oncology-strategies-promises-and-pitfalls
#7
REVIEW
Peter Horak, Stefan Fröhling, Hanno Glimm
We live in an era of genomic medicine. The past five years brought about many significant achievements in the field of cancer genetics, driven by rapidly evolving technologies and plummeting costs of next-generation sequencing (NGS). The official completion of the Cancer Genome Project in 2014 led many to envision the clinical implementation of cancer genomic data as the next logical step in cancer therapy. Stemming from this vision, the term 'precision oncology' was coined to illustrate the novelty of this individualised approach...
2016: ESMO Open
https://www.readbyqxmd.com/read/27915476/translational-research-for-pediatric-lower-urinary-tract-dysfunction
#8
REVIEW
Akihiro Kanematsu
This review provides a comprehensive view of translational research aimed at elucidating the pathophysiology of pediatric lower urinary tract dysfunction (LUTD). A web search was conducted according to combinations of keywords, and the significance of each article was defined by the author. The dramatic evolution of the mass analysis method of genomes, transcripts, and proteins has enabled a comprehensive analysis of molecular events underlying diseases, and these methodologies have also been applied to pediatric LUTD...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27910030/recurrent-cytogenetic-abnormalities-in-non-hodgkin-s-lymphoma-and-chronic-lymphocytic-leukemia
#9
Edmond S K Ma
Characteristic chromosomal translocations are found to be associated with subtypes of B-cell non-Hodgkin lymphoma (NHL), for example t(8;14)(q24;q32) and Burkitt lymphoma, t(14;18)(q32;q21) and follicular lymphoma, and t(11;14)(q13;q32) in mantle cell lymphoma. Only few recurrent cytogenetic aberrations have been identified in the T-cell NHL and the best known is the ALK gene translocation t(2;5)(p23;q35) in anaplastic large cell lymphoma. Since lymph node or other tissue is seldom submitted for conventional cytogenetics study, alternative approaches for translocation detection are polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27900742/-precision-nursing-individual-based-knowledge-translation
#10
Li-Chi Chiang, Mei-Ling Yeh, Sui-Lung Su
U.S. President Obama announced a new era of precision medicine in the Precision Medicine Initiative (PMI). This initiative aims to accelerate the progress of personalized medicine in light of individual requirements for prevention and treatment in order to improve the state of individual and public health. The recent and dramatic development of large-scale biologic databases (such as the human genome sequence), powerful methods for characterizing patients (such as genomics, microbiome, diverse biomarkers, and even pharmacogenomics), and computational tools for analyzing big data are maximizing the potential benefits of precision medicine...
December 2016: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/27896995/muse-a-multi-locus-sampling-based-epistasis-algorithm-for-quantitative-genetic-trait-prediction
#11
Dan He, Laxmi Parida
Quantitative genetic trait prediction based on high-density genotyping arrays plays an important role for plant and animal breeding, as well as genetic epidemiology such as complex diseases. The prediction can be very helpful to develop breeding strategies and is crucial to translate the findings in genetics to precision medicine. Epistasis, the phenomena where the SNPs interact with each other, has been studied extensively in Genome Wide Association Studies (GWAS) but received relatively less attention for quantitative genetic trait prediction...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27895219/primer-in-genetics-and-genomics-article-1-dna-genes-and-chromosomes
#12
Janice S Dorman, Mandy J Schmella, Susan W Wesmiller
Precision medicine refers to the practice of determining a patient's unique genetic, biomarker, and other characteristics for the purpose of improving his or her clinical outcomes. Not all patients with the same clinical diagnosis respond equally to identical treatment regimens. By examining patients at the molecular level, health-care providers will be better able to apply the most effective therapies that each individual requires. To understand precision medicine, nurses must have a solid understanding of genomics and proteomics...
November 28, 2016: Biological Research for Nursing
https://www.readbyqxmd.com/read/27876057/bridging-the-gap-between-clinicians-and-systems-biologists-from-network-biology-to-translational-biomedical-research
#13
REVIEW
Natini Jinawath, Sacarin Bunbanjerdsuk, Maneerat Chayanupatkul, Nuttapong Ngamphaiboon, Nithi Asavapanumas, Jisnuson Svasti, Varodom Charoensawan
With the wealth of data accumulated from completely sequenced genomes and other high-throughput experiments, global studies of biological systems, by simultaneously investigating multiple biological entities (e.g. genes, transcripts, proteins), has become a routine. Network representation is frequently used to capture the presence of these molecules as well as their relationship. Network biology has been widely used in molecular biology and genetics, where several network properties have been shown to be functionally important...
November 22, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27852607/ion-transport-in-the-zebrafish-kidney-from-a-human-disease-angle-possibilities-considerations-and-future-perspectives
#14
Simone Kersten, Francisco J Arjona
Unique experimental advantages, such as its embryonic/larval transparency, high-throughput nature and ease of genetic modification, underpin the rapid emergence of the zebrafish (Danio rerio) as a preeminent model in biomedical research. Particularly in the field of nephrology, the zebrafish provides a promising model for studying the physiological implications of human solute transport processes along consecutive nephron segments. However, while the zebrafish might be considered a valuable model for numerous renal ion transport diseases and functional studies of many channels and transporters, not all human renal electrolyte transport mechanisms and human diseases can be modeled in the zebrafish...
November 16, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27852040/clinical-validation-of-prospective-liquid-biopsy-monitoring-in-patients-with-wild-type-ras-metastatic-colorectal-cancer-treated-with-folfiri-cetuximab
#15
Rodrigo A Toledo, Antonio Cubillo, Estela Vega, Elena Garralda, Rafael Alvarez, Lisardo U de la Varga, Jesús R Pascual, Gema Sánchez, Francesca Sarno, Susana H Prieto, Sofía Perea, Pedro P Lopéz-Casas, Fernando López-Ríos, Manuel Hidalgo
Cancer genomics and translational medicine rely on the molecular profiling of patient's tumor obtained during surgery or biopsy. Alternatively, blood is a less invasive source of tumor DNA shed, amongst other ways, as cell-free DNA (cfDNA). Highly-sensitive assays capable to detect cancer genetic events from patient's blood plasma became popularly known as liquid biopsy (LqB). Importantly, retrospective studies including small number of selected patients with metastatic colorectal cancer (mCRC) patients treated with anti-EGFR therapy have shown LqB capable to detect the acquired clonal mutations in RAS genes leading to therapy resistance...
November 11, 2016: Oncotarget
https://www.readbyqxmd.com/read/27809915/biallelic-modification-of-il2rg-leads-to-severe-combined-immunodeficiency-in-pigs
#16
Jung-Taek Kang, Bumrae Cho, Junghyun Ryu, Caitlin Ray, Eun-Jin Lee, Yun-Jin Yun, SunMi Ahn, JinSeok Lee, Dal-Young Ji, Nathaniel Jue, Sherrie Clark-Deener, Kiho Lee, Kwang-Wook Park
BACKGROUND: Pigs with SCID can be a useful model in regenerative medicine, xenotransplantation, and cancer cell transplantation studies. Utilizing genome editing technologies such as CRISPR/Cas9 system allows us to generate genetically engineered pigs at a higher efficiency. In this study, we report generation and phenotypic characterization of IL2RG knockout female pigs produced through combination of CRISPR/Cas9 system and SCNT. As expected, pigs lacking IL2RG presented SCID phenotype...
November 3, 2016: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/27786179/the-road-to-precision-psychiatry-translating-genetics-into-disease-mechanisms
#17
REVIEW
Michael J Gandal, Virpi Leppa, Hyejung Won, Neelroop N Parikshak, Daniel H Geschwind
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been identified. This success, perhaps paradoxically, has posed challenges for therapeutic development, which are amplified by the highly polygenic and pleiotropic nature of these genetic contributions. Success requires understanding the biological impact of single genetic variants and predicting their effects within an individual. Comprehensive functional genomic annotation of risk loci provides a framework for interpretation of neurobiological impact, requiring experimental validation with in vivo or in vitro model systems...
October 26, 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27766183/genetic-engineered-molecular-imaging-probes-for-applications-in-cell-therapy-emphasis-on-mri-approach
#18
REVIEW
In K Cho, Silun Wang, Hui Mao, Anthony Ws Chan
Recent advances in stem cell-based regenerative medicine, cell replacement therapy, and genome editing technologies (i.e. CRISPR-Cas 9) have sparked great interest in in vivo cell monitoring. Molecular imaging promises a unique approach to noninvasively monitor cellular and molecular phenomena, including cell survival, migration, proliferation, and even differentiation at the whole organismal level. Several imaging modalities and strategies have been explored for monitoring cell grafts in vivo. We begin this review with an introduction describing the progress in stem cell technology, with a perspective toward cell replacement therapy...
2016: American Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/27764000/pharmacogenetics-of-asthma-toward-precision-medicine
#19
Elin T G Kersten, Gerard H Koppelman
PURPOSE OF REVIEW: Although currently available drugs to treat asthma are effective in most patients, a proportion of patients do not respond or experience side-effects; which is partly genetically determined. Pharmacogenetics is the study of how genetic variations influence drug response. In this review, we summarize prior results and recent studies in pharmacogenetics to determine if we can use genetic profiles for personalized treatment of asthma. RECENT FINDINGS: The field of pharmacogenetics has moved from candidate gene studies in single populations toward genome-wide association studies and meta-analysis of multiple studies...
January 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/27757059/neuropsychiatric-genomics-in-precision-medicine-diagnostics-gene-discovery-and-translation
#20
Anna C Need, David B Goldstein
Only a few years after its development, next-generation sequencing is rapidly becoming an essential part of clinical care for patients with serious neurological conditions, especially in the diagnosis of early-onset and severe presentations. Beyond this diagnostic role, there has been an explosion in definitive gene discovery in a range of neuropsychiatric diseases. This is providing new pointers to underlying disease biology and is beginning to outline a new framework for genetic stratification of neuropsychiatric disease, with clear relevance to both individual treatment optimization and clinical trial design...
September 2016: Dialogues in Clinical Neuroscience
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