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Genetics, genomics, translational medicine

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https://www.readbyqxmd.com/read/27933214/integrating-next-generation-sequencing-into-clinical-oncology-strategies-promises-and-pitfalls
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27753828/sy-03-1-genetic-basis-of-blood-pressure-and-hypertension
#15
Anna Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment.The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27736743/from-rat-pathophysiology-to-genomic-medicine-an-interview-with-howard-jacob
#16
(no author information available yet)
Howard Jacob is best known for pioneering genomic sequencing of a patient to solve a mysterious pediatric case in 2010. With roots in pharmacology and cardiovascular disease, however, his career has largely been dedicated to dissecting the physiology and genetics of the rat to help understand complex human diseases. Howard was Director of the Human and Molecular Genetics Center at the Medical College of Wisconsin for 16 years, during which time he applied a combination of approaches, including quantitative genetics, integrative physiology and next-generation sequencing, in rat models to shed light on cardiovascular, metabolic and renal disorders...
October 1, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27719665/plastid-molecular-pharming-ii-production-of-biopharmaceuticals-by-plastid-transformation
#17
Henrik Aronsson, Petter Larsson, Sandra Bains
Higher plants have been used in medicine throughout human history. While traditional medicinal uses relied on compounds produced naturally by plants, recent advances have enabled the use of plant-based factories to produce diverse agents including pharmaceuticals, antibiotics, and vaccines. The genes responsible for the production of these substances can be either transiently expressed in plants or integrated into their nuclear genome or plastid genome (plastome) by genetic transformation. This review focuses on the application of plastid transformation of higher plants to produce biopharmaceuticals for human applications that are neither antibiotics nor vaccines...
October 4, 2016: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/27714756/cardiovascular-pharmacogenetics-a-promise-for-genomically-guided-therapy-and-personalized-medicine
#18
REVIEW
M Zaiou, H El Amri
Cardiovascular disease (CVD) is the leading cause of death worldwide. The basic causes of CVD are not fully understood yet. Substantial evidence suggests that genetic predisposition plays a vital role in the physiopathology of this complex disease. Hence, identification of genetic contributors to CVD will likely add diagnostic accuracy and better prediction of an individual's risk. With high-throughput genetics and genomics technology and newer genome-wide study approaches, a number of genetic variations across the human genome were uncovered...
October 6, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27699628/issues-arising-in-psychological-consultations-to-help-parents-talk-to-minor-and-young-adult-children-about-their-cancer-genetic-test-result-a-guide-to-providers
#19
Andrea Farkas Patenaude, Katherine A Schneider
The defining difference between genetic and traditional medicine is that genetic findings have implications not just for the patient, but also for their relatives. Discussion of a test result between parent and child is both a transformative and a translational moment in the life of a family. Parents report wanting help in talking to their children. The challenge for genetic counselors and other providers is to be able to recognize which issues are at the core of parental distress and be able to offer recommendations to empower and support parents...
October 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27692902/dnm3-and-genetic-modifiers-of-age-of-onset-in-lrrk2-gly2019ser-parkinsonism-a-genome-wide-linkage-and-association-study
#20
Joanne Trinh, Emil K Gustavsson, Carles Vilariño-Güell, Stephanie Bortnick, Jeanne Latourelle, Marna B McKenzie, Chelsea Szu Tu, Ekaterina Nosova, Jaskaran Khinda, Austen Milnerwood, Suzanne Lesage, Alexis Brice, Meriem Tazir, Jan O Aasly, Laura Parkkinen, Hazal Haytural, Tatiana Foroud, Richard H Myers, Samia Ben Sassi, Emna Hentati, Fatma Nabli, Emna Farhat, Rim Amouri, Fayçal Hentati, Matthew J Farrer
BACKGROUND: Leucine-rich repeat kinase 2 (LRRK2) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13-30% in Ashkenazi Jewish populations, and 30-40% in North African Arab-Berber populations, although age of onset is variable. Some carriers have early-onset parkinsonism, whereas others remain asymptomatic despite advanced age. We aimed to use a genome-wide approach to identify genetic variability that directly affects LRRK2 Gly2019Ser penetrance...
November 2016: Lancet Neurology
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