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Genetics, genomics, translational medicine

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https://www.readbyqxmd.com/read/29019032/nanotechnology-as-a-delivery-tool-for-precision-cancer-therapies
#1
Bhawna Sharma, Rachael M Crist, Pavan P Adiseshaiah
Genomic analyses from patients with cancer have improved the understanding of the genetic elements that drive the disease, provided new targets for treating this relentless disease, and offered criteria for stratifying patient populations that will benefit most from treatments. In the last decade, several new targeted therapies have been approved by the FDA based on these omics findings, leading to significantly improved survival and quality of life for select patient populations. However, many of these precision medicines, e...
October 10, 2017: AAPS Journal
https://www.readbyqxmd.com/read/28987179/genetics-of-neurodegenerative-diseases-an-overview
#2
Lasse Pihlstrøm, Sarah Wiethoff, Henry Houlden
Genetic factors are central to the etiology of neurodegeneration, both as monogenic causes of heritable disease and as modifiers of susceptibility to complex, sporadic disorders. Over the last two decades, the identification of disease genes and risk loci has led to some of the greatest advances in medicine and invaluable insights into pathogenic mechanisms and disease pathways. Large-scale research efforts, novel study designs, and advances in methodology are rapidly expanding our understanding of the genome and the genetic architecture of neurodegenerative disease...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28982267/institutional-profile-translational-pharmacogenomics-at-the-icahn-school-of-medicine-at-mount-sinai
#3
Stuart A Scott, Aniwaa Owusu Obeng, Mariana R Botton, Yao Yang, Erick R Scott, Stephen B Ellis, Richard Wallsten, Tom Kaszemacher, Xiang Zhou, Rong Chen, Paola Nicoletti, Hetanshi Naik, Eimear E Kenny, Aida Vega, Eva Waite, George A Diaz, Joel Dudley, Jonathan L Halperin, Lisa Edelmann, Andrew Kasarskis, Jean-Sébastien Hulot, Inga Peter, Erwin P Bottinger, Kurt Hirschhorn, Pamela Sklar, Judy H Cho, Robert J Desnick, Eric E Schadt
For almost 50 years, the Icahn School of Medicine at Mount Sinai has continually invested in genetics and genomics, facilitating a healthy ecosystem that provides widespread support for the ongoing programs in translational pharmacogenomics. These programs can be broadly cataloged into discovery, education, clinical implementation and testing, which are collaboratively accomplished by multiple departments, institutes, laboratories, companies and colleagues. Focus areas have included drug response association studies and allele discovery, multiethnic pharmacogenomics, personalized genotyping and survey-based education programs, pre-emptive clinical testing implementation and novel assay development...
October 6, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28945736/rapid-functional-analysis-of-computationally-complex-rare-human-irf6-gene-variants-using-a-novel-zebrafish-model
#4
Edward B Li, Dawn Truong, Shawn A Hallett, Kusumika Mukherjee, Brian C Schutte, Eric C Liao
Large-scale sequencing efforts have captured a rapidly growing catalogue of genetic variations. However, the accurate establishment of gene variant pathogenicity remains a central challenge in translating personal genomics information to clinical decisions. Interferon Regulatory Factor 6 (IRF6) gene variants are significant genetic contributors to orofacial clefts. Although approximately three hundred IRF6 gene variants have been documented, their effects on protein functions remain difficult to interpret. Here, we demonstrate the protein functions of human IRF6 missense gene variants could be rapidly assessed in detail by their abilities to rescue the irf6 -/- phenotype in zebrafish through variant mRNA microinjections at the one-cell stage...
September 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28944295/towards-precision-medicine-in-alzheimer-s-disease-deciphering-genetic-data-to-establish-informative-biomarkers
#5
Ornit Chiba-Falek, Michael W Lutz
INTRODUCTION: Developing biomarker tools for identification of individuals at high-risk for late-onset Alzheimer's disease (LOAD) is important for prognosis and early treatment. This review focuses on genetic factors and their potential role for precision medicine in LOAD. AREAS COVERED: APOEe4 is the strongest genetic risk factor for non-Mendelian LOAD, and the APOE-linkage disequilibrium (LD) region has produced the most significant association signal in multi-center genome-wide-association-studies (GWAS)...
2017: Expert Review of Precision Medicine and Drug Development
https://www.readbyqxmd.com/read/28926565/a-snp-panel-and-online-tool-for-checking-genotype-concordance-through-comparing-qr-codes
#6
Yonghong Du, Joshua S Martin, John McGee, Yuchen Yang, Eric Yi Liu, Yingrui Sun, Matthias Geihs, Xuejun Kong, Eric Lingfeng Zhou, Yun Li, Jie Huang
In the current precision medicine era, more and more samples get genotyped and sequenced. Both researchers and commercial companies expend significant time and resources to reduce the error rate. However, it has been reported that there is a sample mix-up rate of between 0.1% and 1%, not to mention the possibly higher mix-up rate during the down-stream genetic reporting processes. Even on the low end of this estimate, this translates to a significant number of mislabeled samples, especially over the projected one billion people that will be sequenced within the next decade...
2017: PloS One
https://www.readbyqxmd.com/read/28858330/navigating-the-research-clinical-interface-in-genomic-medicine-analysis-from-the-cser-consortium
#7
Susan M Wolf, Laura M Amendola, Jonathan S Berg, Wendy K Chung, Ellen Wright Clayton, Robert C Green, Julie Harris-Wai, Gail E Henderson, Gail P Jarvik, Barbara A Koenig, Lisa Soleymani Lehmann, Amy L McGuire, Pearl O'Rourke, Carol Somkin, Benjamin S Wilfond, Wylie Burke
PurposeThe Clinical Sequencing Exploratory Research (CSER) Consortium encompasses nine National Institutes of Health-funded U-award projects investigating translation of genomic sequencing into clinical care. Previous literature has distinguished norms and rules governing research versus clinical care. This is the first study to explore how genomics investigators describe and navigate the research-clinical interface.MethodsA CSER working group developed a 22-item survey. All nine U-award projects participated...
August 31, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28840552/the-emerging-role-of-proteomics-in-precision-medicine-applications-in-neurodegenerative-diseases-and-neurotrauma
#8
Rana Alaaeddine, Mira Fayad, Eliana Nehme, Hisham F Bahmad, Firas Kobeissy
Inter-individual variability in response to pharmacotherapy has provoked a higher demand to personalize medical decisions. As the field of pharmacogenomics has served to translate personalized medicine from concept to practice, the contribution of the "omics" disciplines to the era of precision medicine seems to be vital in improving therapeutic outcomes. Although we have observed significant advances in the field of genomics towards personalized medicine , the field of proteomics-with all its capabilities- is still in its infancy towards the area of personalized precision medicine...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28810112/patient-and-physician-perceptions-of-genetic-testing-in-primary-care
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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/study-break-precision-medicine-a-new-revolution-in-healthcare-system
#17
Babak Arjmand, Mohammad Abdollahi, Bagher Larijani
No abstract text is available yet for this article.
September 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
#18
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
#19
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...
September 1, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28472454/sex-in-basic-research-concepts-in-the-cardiovascular-field
#20
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
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