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Genetics, genomics, translational medicine

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https://www.readbyqxmd.com/read/28810112/patient-and-physician-perceptions-of-genetic-testing-in-primary-care
#1
Samuel A Evenson, H Eugene Hoyme, Jan E Haugen-Rogers, Eric A Larson, Susan E Puumala
INTRODUCTION: The convergence of biomedical informatics and translational genomics is changing the way we practice. Primary care will play a pivotal role in this transformation. We therefore sought to assess general knowledge about genetic testing among outpatient internal medicine providers, and the patients that they serve across a five state region in the Midwest. METHODS: One thousand take-home paper surveys were created and distributed to internal medicine patients at 13 Midwestern clinics...
November 2016: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28741255/genetics-of-schizophrenia-ready-to-translate
#2
REVIEW
Claire Foley, Aiden Corvin, Shigeki Nakagome
PURPOSE OF REVIEW: This is an era where we have significantly advanced the understanding of the genetic architecture of schizophrenia. In this review, we consider how this knowledge may translate into advances that will improve patient care. RECENT FINDINGS: Large-scale genome-wide association studies (GWAS) have identified more than a hundred loci each making a small contribution to illness risk. Meta-analysis of copy number variants (CNVs) in the Psychiatric Genomics Consortium (PGC) dataset has confirmed that some variants have a moderate or large impact on risk, although these are rare in the population...
September 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28687337/a-translational-synthetic-biology-platform-for-rapid-access-to-gram-scale-quantities-of-novel-drug-like-molecules
#3
James Reed, Michael J Stephenson, Karel Miettinen, Bastiaan Brouwer, Aymeric Leveau, Paul Brett, Rebecca J M Goss, Alain Goossens, Maria A O'Connell, Anne Osbourn
Plants are an excellent source of drug leads. However availability is limited by access to source species, low abundance and recalcitrance to chemical synthesis. Although plant genomics is yielding a wealth of genes for natural product biosynthesis, the translation of this genetic information into small molecules for evaluation as drug leads represents a major bottleneck. For example, the yeast platform for artemisinic acid production is estimated to have taken >150 person years to develop. Here we demonstrate the power of plant transient transfection technology for rapid, scalable biosynthesis and isolation of triterpenes, one of the largest and most structurally diverse families of plant natural products...
July 2017: Metabolic Engineering
https://www.readbyqxmd.com/read/28655327/advances-in-the-delivery-of-rna-therapeutics-from-concept-to-clinical-reality
#4
REVIEW
James C Kaczmarek, Piotr S Kowalski, Daniel G Anderson
The rapid expansion of the available genomic data continues to greatly impact biomedical science and medicine. Fulfilling the clinical potential of genetic discoveries requires the development of therapeutics that can specifically modulate the expression of disease-relevant genes. RNA-based drugs, including short interfering RNAs and antisense oligonucleotides, are particularly promising examples of this newer class of biologics. For over two decades, researchers have been trying to overcome major challenges for utilizing such RNAs in a therapeutic context, including intracellular delivery, stability, and immune response activation...
June 27, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28646744/systematic-biobanking-novel-imaging-techniques-and-advanced-molecular-analysis-for-precise-tumor-diagnosis-and-therapy-the-polish-mobit-project
#5
Jacek Niklinski, Adam Kretowski, Marcin Moniuszko, Joanna Reszec, Anna Michalska-Falkowska, Magdalena Niemira, Michal Ciborowski, Radoslaw Charkiewicz, Dorota Jurgilewicz, Miroslaw Kozlowski, Rodryg Ramlau, Cezary Piwkowski, Miroslaw Kwasniewski, Monika Kaczmarek, Andrzej Ciereszko, Tomasz Wasniewski, Robert Mroz, Wojciech Naumnik, Ewa Sierko, Magdalena Paczkowska, Joanna Kisluk, Anetta Sulewska, Adam Cybulski, Zenon Mariak, Boguslaw Kedra, Jacek Szamatowicz, Paweł Kurzawa, Lukasz Minarowski, Angelika Edyta Charkiewicz, Barbara Mroczko, Jolanta Malyszko, Christian Manegold, Lothar Pilz, Heike Allgayer, Mohammed L Abba, Hartmut Juhl, Frauke Koch
Personalized and precision medicine is gaining recognition due to the limitations by standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored and individualized treatment for patients based on their clinical characteristics and genetic signatures as well as novel imaging techniques. Advances in whole genome sequencing have led to identification of genes involved in a variety of diseases. Moreover, biomarkers indicating severity of disease or susceptibility to treatment are increasingly being characterized...
June 21, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28612549/-precision-medicine-in-obesity-research-and-practice
#6
REVIEW
She-Yu Li, Shuang-Qing Li
Obesity now already becomes a critical health problem in our country and the world. Since the genomic and biochemical technology has developed in the era of precision medicine, great progression has been achieved in the field of obesity research and clinical practice. Obesity is considered to be a series of diseases with high heterogeneity beyond expectations, which brings up the challenges on its diagnosis and classification. Predictive models for obesity remain absent in clinical practice and commercial use...
January 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28608853/genetic-tests-in-major-psychiatric-disorders-integrating-molecular-medicine-with-clinical-psychiatry-why-is-it-so-difficult
#7
REVIEW
U Demkow, T Wolańczyk
With the advent of post-genomic era, new technologies create extraordinary possibilities for diagnostics and personalized therapy, transforming todays' medicine. Rooted in both medical genetics and clinical psychiatry, the paper is designed as an integrated source of information of the current and potential future application of emerging genomic technologies as diagnostic tools in psychiatry, moving beyond the classical concept of patient approach. Selected approaches are presented, starting from currently used technologies (next-generation sequencing (NGS) and microarrays), followed by newer options (reverse phenotyping)...
June 13, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28566086/the-genetics-of-gout-towards-personalised-medicine
#8
REVIEW
Nicola Dalbeth, Lisa K Stamp, Tony R Merriman
Over the last decade, there have been major advances in the understanding of the genetic basis of hyperuricaemia and gout as well as of the pharmacogenetics of urate-lowering therapy. Key findings include the reporting of 28 urate-associated loci, the discovery that ABCG2 plays a central role on extra-renal uric acid excretion, the identification of genes associated with development of gout in the context of hyperuricaemia, recognition that ABCG2 variants influence allopurinol response, and the impact of HLA-B*5801 testing in reducing the prevalence of allopurinol hypersensitivity in high-risk populations...
May 31, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28558437/precision-medicine-a-new-revolution-in-healthcare-system
#9
Babak Arjmand, Mohammad Abdollahi, Bagher Larijani
Every human being is different based on genetics, lifestyle, and environmental factors. Novel medical technologies have become more precise owing to molecular information, including genomics, transcriptomics, proteomics, metabolomics, etc. The “omics” technologies have opened up new horizons for healthcare systems, enabling them to prevent and/or diagnose diseases more precisely, as well as to find the most effective treatments with fewer adverse events. Recently, the term ‘precision medicine’ (PM), focusing on molecular-based medicine, has been introduced...
May 31, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28532511/challenges-and-strategies-for-implementing-genomic-services-in-diverse-settings-experiences-from-the-implementing-genomics-in-practice-ignite-network
#10
Nina R Sperber, Janet S Carpenter, Larisa H Cavallari, Laura J Damschroder, Rhonda M Cooper-DeHoff, Joshua C Denny, Geoffrey S Ginsburg, Yue Guan, Carol R Horowitz, Kenneth D Levy, Mia A Levy, Ebony B Madden, Michael E Matheny, Toni I Pollin, Victoria M Pratt, Marc Rosenman, Corrine I Voils, Kristen W Weitzel, Russell A Wilke, R Ryanne Wu, Lori A Orlando
BACKGROUND: To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthesize data on challenges identified by six diverse projects that are part of a National Human Genome Research Institute (NHGRI)-funded network focused on implementing genomics into practice and strategies to overcome these challenges. METHODS: We used a multiple-case study approach with each project considered as a case and qualitative methods to elicit and describe themes related to implementation challenges and strategies...
May 22, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28479380/crispr-groundbreaking-technology-for-rna-guided-genome-engineering
#11
EDITORIAL
Le Cong
Years of advances in high-throughput biotechnologies exemplified by nucleic acid sequencing and single-molecular imaging have led to our increasing capacity to interrogate genomes down to nucleotide accuracy with single-cell or even subcellular resolution, thereby gaining high-dimensional information on the genetic variants and epigenetic states associated with physiological and pathological processes. To achieve a causal understanding of the exquisite biology encoded in our genome, researchers in the past decades have sought to develop companion genome engineering tools...
May 4, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28472454/sex-in-basic-research-concepts-in-the-cardiovascular-field
#12
Renée Ventura-Clapier, Elke Dworatzek, Ute Seeland, Georgios Kararigas, Jean-Francois Arnal, Sandra Brunelleschi, Thomas C Carpenter, Jeanette Erdmann, Flavia Franconi, Elisa Giannetta, Marek Glezerman, Susanna M Hofmann, Claudine Junien, Miyuki Katai, Karolina Kublickiene, Inke R König, Gregor Majdic, Walter Malorni, Christin Mieth, Virginia M Miller, Rebecca M Reynolds, Hiroaki Shimokawa, Cara Tannenbaum, Anna Maria D'Ursi, Vera Regitz-Zagrosek
Women and men, female and male animals and cells are biologically different, and acknowledgement of this fact is critical to advancing medicine. However, incorporating concepts of sex-specific analysis in basic research is largely neglected, introducing bias into translational findings, clinical concepts and drug development. Research funding agencies recently approached these issues but implementation of policy changes in the scientific community is still limited, probably due to deficits in concepts, knowledge and proper methodology...
June 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28447115/human-genetics-as-a-model-for-target-validation-finding-new-therapies-for-diabetes
#13
REVIEW
Soren K Thomsen, Anna L Gloyn
Type 2 diabetes is a global epidemic with major effects on healthcare expenditure and quality of life. Currently available treatments are inadequate for the prevention of comorbidities, yet progress towards new therapies remains slow. A major barrier is the insufficiency of traditional preclinical models for predicting drug efficacy and safety. Human genetics offers a complementary model to assess causal mechanisms for target validation. Genetic perturbations are 'experiments of nature' that provide a uniquely relevant window into the long-term effects of modulating specific targets...
June 2017: Diabetologia
https://www.readbyqxmd.com/read/28420614/applications-of-genome-editing-tools-in-precision-medicine-research
#14
REVIEW
Li Shuang, Yang Yuanyuan, Qiu Yan, Chen Yanhao, Xu Luwei, Ding Qiurong
The emergence of genome editing tools, such as the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9) system, has enabled researchers to achieve somatic and germline genomic manipulations in cell lines and model organisms. Within a couple of years, genome editing is now being rapidly developed for multiple applications and widely used in biomedical researches, including creation of disease models with desired genetic mutations, screening in a high-throughput manner for drug resistance genes, and making appropriate editions to genes in vivo for disease treatment...
March 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28415856/gene-and-variant-annotation-for-mendelian-disorders-in-the-era-of-advanced-sequencing-technologies
#15
Samya Chakravorty, Madhuri Hegde
Comprehensive annotations of genetic and noncoding regions and corresponding accurate variant classification for Mendelian diseases are the next big challenge in the new genomic era of personalized medicine. Progress in the development of faster and more accurate pipelines for genome annotation and variant classification will lead to the discovery of more novel disease associations and candidate therapeutic targets. This ultimately will facilitate better patient recruitment in clinical trials. In this review, we describe the trends in research at the intersection of basic and clinical genomics that aims to increase understanding of overall genomic complexity, complex inheritance patterns of disease, and patient-phenotype-specific genomic associations...
April 17, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28402189/going-non-viral-the-sleeping-beauty-transposon-system-breaks-on-through-to-the-clinical-side
#16
REVIEW
Michael Hudecek, Zsuzsanna Izsvák, Sandra Johnen, Matthias Renner, Gabriele Thumann, Zoltán Ivics
Molecular medicine has entered a high-tech age that provides curative treatments of complex genetic diseases through genetically engineered cellular medicinal products. Their clinical implementation requires the ability to stably integrate genetic information through gene transfer vectors in a safe, effective and economically viable manner. The latest generation of Sleeping Beauty (SB) transposon vectors fulfills these requirements, and may overcome limitations associated with viral gene transfer vectors and transient non-viral gene delivery approaches that are prevalent in ongoing pre-clinical and translational research...
August 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28385534/type-2-diabetes-associated-variants-with-cross-trait-relevance-post-gwas-strategies-for-biological-function-interpretation
#17
Francesca Frau, Daniel Crowther, Hartmut Ruetten, Karla V Allebrandt
Genome-wide association studies (GWAs) for type 2 diabetes (T2D) have been successful in identifying many loci with robust association signals. Nevertheless, there is a clear need for post-GWAs strategies to understand mechanism of action and clinical relevance of these variants. The association of several comorbidities with T2D suggests a common etiology for these phenotypes and complicates the management of the disease. In this study, we focused on the genetics underlying these relationships, using systems genomics to identify genetic variation associated with T2D and 12 other traits...
March 22, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28367231/molecular-subtyping-of-pancreatic-cancer-translating-genomics-and-transcriptomics-into-the-clinic
#18
REVIEW
Yongxing Du, Bangbo Zhao, Ziwen Liu, Xiaoxia Ren, Wenjing Zhao, Zongze Li, Lei You, Yupei Zhao
Pancreatic cancer remains one of the most lethal malignancies, and insights into both personalized diagnosis and intervention of this disease are urgently needed. The rapid development of sequencing technologies has enabled the successive completion of a series of genetic and epigenetic sequencing studies of pancreatic cancer. The mutational landscape of pancreatic cancer is generally portrayed in terms of somatic mutations, structural variations, epigenetic alterations and the core signaling pathways. In recent years, four significant molecular subtype classifications of pancreatic cancer have been proposed based on the expression of transcription factors and downstream targets or the distribution of structural rearrangements...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28328372/psychiatric-genomics-and-mental-health-treatment-setting-the-ethical-agenda
#19
Camillia Kong, Michael Dunn, Michael Parker
Realizing the benefits of translating psychiatric genomics research into mental health care is not straightforward. The translation process gives rise to ethical challenges that are distinctive from challenges posed within psychiatric genomics research itself, or that form part of the delivery of clinical psychiatric genetics services. This article outlines and considers three distinct ethical concerns posed by the process of translating genomic research into frontline psychiatric practice and policy making...
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28327571/insights-from-early-experience-of-a-rare-disease-genomic-medicine-multidisciplinary-team-a-qualitative-study
#20
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Jude Craft, Julian C Knight, John Taylor, Jenny C Taylor, Andrew Om Wilkie, Hugh Watkins
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought...
June 2017: European Journal of Human Genetics: EJHG
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