keyword
MENU ▼
Read by QxMD icon Read
search

Genomics Medicine

keyword
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/27933213/molecular-pathology-of-cancer-how-to-communicate-with-disease
#2
REVIEW
Peter Birner, Gerald Prager, Berthold Streubel
: Recent technical advances have brought insights into the biology of cancer in human, establishing it as a disease driven by genetic mutations. Beside inherited family tumour syndromes caused by germline mutations, somatic genetic alterations occur early in tumourigenesis, which accumulate during the progression of the disease and its treatment. Based on these observations, medical oncology has started to enter an era of stratified medicine, where treatment selection is becoming tailored to drugable molecular pathways...
2016: ESMO Open
https://www.readbyqxmd.com/read/27930734/pathogenic-mutations-in-cancer-predisposing-genes-a-survey-of-300-patients-with-whole-genome-sequencing-and-lifetime-electronic-health-records
#3
Karen Y He, Yiqing Zhao, Elizabeth W McPherson, Quan Li, Fan Xia, Chunhua Weng, Kai Wang, Max M He
BACKGROUND: It is unclear whether and how whole-genome sequencing (WGS) data can be used to implement genomic medicine. Our objective is to retrospectively evaluate whether WGS can facilitate improving prevention and care for patients with susceptibility to cancer syndromes. METHODS AND FINDINGS: We analyzed genetic mutations in 60 autosomal dominant cancer-predisposition genes in 300 deceased patients with WGS data and nearly complete long-term (over 30 years) medical records...
2016: PloS One
https://www.readbyqxmd.com/read/27930095/multi-omics-data-integration-and-mapping-of-altered-kinases-to-pathways-reveal-gonadotropin-hormone-signaling-in-glioblastoma
#4
Savita Jayaram, Manoj Kumar Gupta, Rajesh Raju, Poonam Gautam, Ravi Sirdeshmukh
Glioblastoma multiforme (GBM) is one of the most lethal brain tumors with an inadequately understood pathophysiology. Biomarkers that guide accurate diagnosis and treatment decisions would greatly support precision medicine for GBM. Previous studies of GBM have focused on signaling pathways such as epidermal growth factor receptor (EGFR), platelet-derived growth factor receptors (PDGFRs), notch, wnt, and others, identified with single omics technology platforms (genomics, transcriptomics, or proteomics), but not with their integrated use...
December 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27928708/withania-somnifera-reverses-transactive-response-dna-binding-protein-43-proteinopathy-in-a-mouse-model-of-amyotrophic-lateral-sclerosis-frontotemporal-lobar-degeneration
#5
Kallol Dutta, Priyanka Patel, Reza Rahimian, Daniel Phaneuf, Jean-Pierre Julien
Abnormal cytoplasmic mislocalization of transactive response DNA binding protein 43 (TARDBP or TDP-43) in degenerating neurons is a hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). Our previous work suggested that nuclear factor kappa B (NF-κB) may constitute a therapeutic target for TDP-43-mediated disease. Here, we investigated the effects of root extract of Withania somnifera (Ashwagandha), an herbal medicine with anti-inflammatory properties, in transgenic mice expressing a genomic fragment encoding human TDP-43(A315T) mutant...
December 7, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27927967/the-common-r71h-g230a-r293q-human-tmem173-is-a-null-allele
#6
Seema Patel, Steven M Blaauboer, Heidi R Tucker, Samira Mansouri, Juan Sebastian Ruiz-Moreno, Lutz Hamann, Ralf R Schumann, Bastian Opitz, Lei Jin
TMEM173 encodes MPYS/STING and is an innate immune sensor for cyclic dinucleotides (CDNs) playing a critical role in infection, inflammation, and cancer. The R71H-G230A-R293Q (HAQ) of TMEM173 is the second most common human TMEM173 allele. In this study, using data from the 1000 Genomes Project we found that homozygous HAQ individuals account for ∼16.1% of East Asians and ∼2.8% of Europeans whereas Africans have no homozygous HAQ individuals. Using B cells from homozygous HAQ carriers, we found, surprisingly, that HAQ/HAQ carriers express extremely low MPYS protein and have a decreased TMEM173 transcript...
December 7, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27927793/tumour-biomarkers-homeostasis-as-a-novel-prognostic-indicator
#7
REVIEW
Michela Falco, Giuseppe Palma, Domenica Rea, Davide De Biase, Stefania Scala, Massimiliano D'Aiuto, Gaetano Facchini, Sisto Perdonà, Antonio Barbieri, Claudio Arra
The term 'personalized medicine' refers to a medical procedure that consists in the grouping of patients based on their predicted individual response to therapy or risk of disease. In oncologic patients, a 'tailored' therapeutic approach may potentially improve their survival and well-being by not only reducing the tumour, but also enhancing therapeutic response and minimizing the adverse effects. Diagnostic tests are often used to select appropriate and optimal therapies that rely both on patient genome and other molecular/cellular analysis...
December 2016: Open Biology
https://www.readbyqxmd.com/read/27926888/precision-medicine-genomics-and-public-health
#8
Donna K Arnett, Steven A Claas
No abstract text is available yet for this article.
November 2016: Diabetes Care
https://www.readbyqxmd.com/read/27926887/the-application-of-genomics-in-diabetes-barriers-to-discovery-and-implementation
#9
James S Floyd, Bruce M Psaty
The emerging availability of genomic and electronic health data in large populations is a powerful tool for research that has drawn interest in bringing precision medicine to diabetes. In this article, we discuss the potential application of genomics to the prediction, prevention, and treatment of diabetes, and we use examples from other areas of medicine to illustrate some of the challenges involved in conducting genomics research in human populations and implementing findings in practice. At this time, a major barrier to the application of genomics in diabetes care is the lack of actionable genomic findings...
November 2016: Diabetes Care
https://www.readbyqxmd.com/read/27924449/translation-and-adaptation-of-skin-cancer-genomic-risk-education-materials-for-implementation-in-primary-care
#10
Vivian M Rodríguez, Erika Robers, Kate Zielaskowski, C Javier González, Keith Hunley, Kimberly A Kaphingst, Dolores D Guest, Andrew Sussman, Kirsten A Meyer White, Matthew R Schwartz, Jennie Greb, Yvonne Talamantes, Jessica Bigney, Marianne Berwick, Jennifer L Hay
Genomic medicine has revolutionized disease risk identification and subsequent risk reduction interventions. Skin cancer risk genomic feedback is a promising vehicle to raise awareness and protective behaviors in the general population, including Hispanics who are largely unaware of their risks. Yet, personalized genomics currently has limited reach. This study is the initial phase of a randomized controlled trial investigating the personal utility and reach of genomic testing and feedback for melanoma. Semi-structured cognitive interviews (N = 28), stratified across education level, were conducted to assess the comprehension and acceptability of translated skin cancer genomic risk education materials with Spanish-speaking Hispanic primary care patients...
December 6, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27924130/stable-plastid-transformation-in-scoparia-dulcis-l
#11
Narra Muralikrishna, Kota Srinivas, Kalva Bharath Kumar, Abbagani Sadanandam
In the present investigation we report stable plastid transformation in Scoparia dulcis L., a versatile medicinal herb via particle gun method. The vector KNTc, harbouring aadA as a selectable marker and egfp as a reporter gene which were under the control of synthetic promoter pNG1014a, targets inverted repeats, trnR/trnN of the plastid genome. By use of this heterologous vector, recovery of transplastomic lines with suitable selection protocol have been successfully established with overall efficiency of two transgenic lines for 25 bombarded leaf explants...
October 2016: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
https://www.readbyqxmd.com/read/27924064/toward-the-use-of-precision-medicine-for-the-treatment-of-head-and-neck-squamous-cell-carcinoma
#12
REVIEW
Wang Gong, Yandi Xiao, Zihao Wei, Yao Yuan, Min Qiu, Chongkui Sun, Xin Zeng, Xinhua Liang, Mingye Feng, Qianming Chen
Precision medicine is a new strategy that aims at preventing and treating human diseases by focusing on individual variations in people's genes, environment and lifestyle. Precision medicine has been used for cancer diagnosis and treatment and shows evident clinical efficacy. Rapid developments in molecular biology, genetics and sequencing technologies, as well as computational technology, has enabled the establishment of "big data", such as the Human Genome Project, which provides a basis for precision medicine...
December 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27924022/expanded-national-database-collection-and-data-coverage-in-the-findbase-worldwide-database-for-clinically-relevant-genomic-variation-allele-frequencies
#13
Emmanouil Viennas, Angeliki Komianou, Clint Mizzi, Maja Stojiljkovic, Christina Mitropoulou, Juha Muilu, Mauno Vihinen, Panagiota Grypioti, Styliani Papadaki, Cristiana Pavlidis, Branka Zukic, Theodora Katsila, Peter J van der Spek, Sonja Pavlovic, Giannis Tzimas, George P Patrinos
FINDbase (http://www.findbase.org) is a comprehensive data repository that records the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants leading mostly to monogenic disorders and pharmacogenomics biomarkers. The database also records the incidence of rare genetic diseases in various populations, all in well-distinct data modules. Here, we report extensive data content updates in all data modules, with direct implications to clinical pharmacogenomics...
October 18, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27922066/de-novo-transcriptome-characterization-of-dracaena-cambodiana-and-analysis-of-genes-involved-in-flavonoid-accumulation-during-formation-of-dragon-s-blood
#14
Jia-Hong Zhu, Tian-Jun Cao, Hao-Fu Dai, Hui-Liang Li, Dong Guo, Wen-Li Mei, Shi-Qing Peng
Dragon's blood is a red resin mainly extracted from Dracaena plants, and has been widely used as a traditional medicine in East and Southeast Asia. The major components of dragon's blood are flavonoids. Owing to a lack of Dracaena plants genomic information, the flavonoids biosynthesis and regulation in Dracaena plants remain unknown. In this study, three cDNA libraries were constructed from the stems of D. cambodiana after injecting the inducer. Approximately 266.57 million raw sequencing reads were de novo assembled into 198,204 unigenes, of which 34,873 unique sequences were annotated in public protein databases...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27921197/counselees-perspectives-of-genomic-counseling-following-online-receipt-of-multiple-actionable-complex-disease-and-pharmacogenomic-results-a-qualitative-research-study
#15
Kevin Sweet, Shelly Hovick, Amy C Sturm, Tara Schmidlen, Erynn Gordon, Barbara Bernhardt, Lisa Wawak, Karen Wernke, Joseph McElroy, Laura Scheinfeldt, Amanda E Toland, J S Roberts, Michael Christman
Genomic applications raise multiple challenges including the optimization of genomic counseling (GC) services as part of the results delivery process. More information on patients' motivations, preferences, and informational needs are essential to guide the development of new, more efficient practice delivery models that capitalize on the existing strengths of a limited genetic counseling workforce. Semi-structured telephone interviews were conducted with a subset of counselees from the Coriell Personalized Medicine Collaborative following online receipt of multiple personalized genomic test reports...
December 5, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27920271/the-need-for-a-privacy-standard-for-medical-devices-that-transmit-protected-health-information-used-in-the-precision-medicine-initiative-for-diabetes-and-other-diseases
#16
David C Klonoff, W Nicholson Price
Privacy is an important concern for the Precision Medicine Initiative (PMI) because success of this initiative will require the public to be willing to participate by contributing large amounts of genetic/genomic information and sensor data. This sensitive personal information is intended to be used only for specified research purposes. Public willingness to participate will depend on the public's level of trust that their information will be protected and kept private. Medical devices may constantly provide information...
December 4, 2016: Journal of Diabetes Science and Technology
https://www.readbyqxmd.com/read/27919783/the-potential-of-induced-pluripotent-stem-cells-as-a-tool-to-study-skeletal-dysplasias-and-cartilage-related-pathologic-conditions
#17
REVIEW
Huan Liu, Lei Yang, Fang Fang Yu, Sen Wang, Cuiyan Wu, Chengjuan Qu, Xiong Guo, Mikko J Lammi
The development of induced pluripotent stem cells (iPSCs) technology has opened up new horizons for development of new research tools especially for skeletal dysplasias, which often lack human disease models. Regenerative medicine and tissue engineering could be the next areas to benefit from refinement of iPSC methods to repair focal cartilage defects, while applications for osteoarthritis (OA) and drug screening have evolved rather slowly. Although the advances in iPSC research of skeletal dysplasias and repair of focal cartilage lesions are not directly relevant to OA, they can be considered to pave the way to future prospects and solutions to OA research, too...
December 2, 2016: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/27919438/does-an-increased-body-mass-index-affect-endometrial-gene-expression-patterns-in-infertile-patients-a%C3%A2-functional-genomics-analysis
#18
Ioanna A Comstock, Patricia Diaz-Gimeno, Sergio Cabanillas, Jose Bellver, Patricia Sebastian-Leon, Meera Shah, Amy Schutt, Cecilia T Valdes, Maria Ruiz-Alonso, Diana Valbuena, Carlos Simon, Ruth B Lathi
OBJECTIVE: To analyze the transcriptomic profile of endometrial gene alterations during the window of implantation in infertile obese patients. DESIGN: Multicenter, prospective, case-control study. SETTING: Three academic medical centers for reproductive medicine. PATIENT(S): Infertile patients, stratified into body mass index (BMI) categories according to the World Health Organization guidelines, were included in the study...
December 2, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27917384/genetic-alterations-in-intervertebral-disc-disease
#19
REVIEW
Nikolay L Martirosyan, Arpan A Patel, Alessandro Carotenuto, M Yashar S Kalani, Evgenii Belykh, Corey T Walker, Mark C Preul, Nicholas Theodore
BACKGROUND: Intervertebral disc degeneration (IVDD) is considered a multifactorial disease that is influenced by both environmental and genetic factors. The last two decades of research strongly demonstrate that genetic factors contribute about 75% of the IVDD etiology. Recent total genome sequencing studies have shed light on the various single-nucleotide polymorphisms (SNPs) that are associated with IVDD. AIM: This review presents comprehensive and updated information about the diversity of genetic factors in the inflammatory, degradative, homeostatic, and structural systems involved in the IVDD...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27916552/plenty-is-no-plague-streptomyces-symbiosis-with-crops
#20
REVIEW
Thomas Rey, Bernard Dumas
Streptomyces spp. constitute a major clade of the phylum Actinobacteria. These Gram-positive, filamentous prokaryotes are ubiquitous in soils and marine sediments, and are commonly found in the rhizosphere or inside plant roots. Plant-interacting Streptomyces have received limited attention, in contrast to Streptomyces spp. extensively investigated for decades in medicine given their rich potential for secondary metabolite biosynthesis. Recent genomic, metabolomic, and biotechnological advances have produced key insights into Streptomyces spp...
November 5, 2016: Trends in Plant Science
keyword
keyword
109514
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"