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https://www.readbyqxmd.com/read/28614576/the-hope-and-hype-of-crispr-cas9-genome-editing-a-review
#1
Kiran Musunuru
Importance: Clustered regularly interspaced short palindromic repeats (CRISPR) CRISPR-associated protein 9 (CRISPR-Cas9) has garnered a great degree of attention since its first reported uses in mammalian cells in early 2013 due to its perceived impact with respect to potential research applications and, especially, therapeutic applications. Observations: CRISPR-Cas9 is being widely used in the laboratory and has greatly improved the ability to generate genetically modified animal models of human diseases...
June 14, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28613249/hypoxia-inducible-factor-2-alpha-and-prolinhydroxylase-2-polymorphisms-in-patients-with-acute-respiratory-distress-syndrome-ards
#2
Annika Dötsch, Lewin Eisele, Miriam Rabeling, Katharina Rump, Kai Walstein, Alexandra Bick, Linda Cox, Andrea Engler, Hagen S Bachmann, Karl-Heinz Jöckel, Michael Adamzik, Jürgen Peters, Simon T Schäfer
Hypoxia-inducible-factor-2α (HIF-2α) and HIF-2 degrading prolyl-hydroxylases (PHD) are key regulators of adaptive hypoxic responses i.e., in acute respiratory distress syndrome (ARDS). Specifically, functionally active genetic variants of HIF-2α (single nucleotide polymorphism (SNP) [ch2:46441523(hg18)]) and PHD2 (C/T; SNP rs516651 and T/C; SNP rs480902) are associated with improved adaptation to hypoxia i.e., in high-altitude residents. However, little is known about these SNPs' prevalence in Caucasians and impact on ARDS-outcome...
June 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28610401/oncogenesis-of-thyroid-cancer
#3
Enas Younis
Thyroid neoplasms encompass a variety of lesions that range from benign adenomas to malignancies. These latter can be well-differentiated, poorly differentiated or undifferentiated (anaplastic) carcinomas. More than 95% of thyroid cancers are derived from thyroid follicular cells, while 2-3% (medullary thyroid cancers, MTC) originate from calcitonin producing C-cells. Over the last decade, investigators have developed a clearer understanding of genetic alterations underlying thyroid carcinogenesis. A number of point mutations and translocations are involved, not only in its tumorigenesis, but also as have potential use as diagnostic and prognostic indicators and therapeutic targets...
May 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28601979/young-people-s-awareness-on-biobanking-and-dna-profiling-results-of-a-questionnaire-administered-to-italian-university-students
#4
Pamela Tozzo, Antonio Fassina, Luciana Caenazzo
Current policy approaches to social and ethical issues surrounding biobanks manifest lack of public information given by researchers and government, despite the evidence that Italian citizens are well informed about technical and other public perspectives of biotechnologies. For this reason, the focus of our survey was to interview our University's students on these aspects. The sample consisted of Padua University students (N = 959), who were administered a questionnaire comprising eight questions covering their knowledge about biobanks, their perception of the related benefits and risks, their willingness to donate samples to a biobank for research purposes, their attitude to having their own DNA profile included in a forensic DNA database, and the reasons behind their answers...
December 2017: Life Sciences, Society and Policy
https://www.readbyqxmd.com/read/28595734/ethics-big-data-and-computing-in-epidemiology-and-public-health
#5
Jennifer Salerno, Bartha M Knoppers, Lisa M Lee, WayWay M Hlaing, Kenneth W Goodman
PURPOSE: This article reflects on the activities of the Ethics Committee of the American College of Epidemiology (ACE). Members of the Ethics Committee identified an opportunity to elaborate on knowledge gained since the inception of the original Ethics Guidelines published by the ACE Ethics and Standards of Practice Committee in 2000. METHODS: The ACE Ethics Committee presented a symposium session at the 2016 Epidemiology Congress of the Americas in Miami on the evolving complexities of ethics and epidemiology as it pertains to "big data...
May 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/28592502/the-mouse-lemur-a-genetic-model-organism-for-primate-biology-behavior-and-health
#6
REVIEW
Camille Ezran, Caitlin J Karanewsky, Jozeph L Pendleton, Alex Sholtz, Maya R Krasnow, Jason Willick, Andriamahery Razafindrakoto, Sarah Zohdy, Megan A Albertelli, Mark A Krasnow
Systematic genetic studies of a handful of diverse organisms over the past 50 years have transformed our understanding of biology. However, many aspects of primate biology, behavior, and disease are absent or poorly modeled in any of the current genetic model organisms including mice. We surveyed the animal kingdom to find other animals with advantages similar to mice that might better exemplify primate biology, and identified mouse lemurs (Microcebus spp.) as the outstanding candidate. Mouse lemurs are prosimian primates, roughly half the genetic distance between mice and humans...
June 2017: Genetics
https://www.readbyqxmd.com/read/28589120/a-crispr-new-world-attitudes-in-the-public-toward-innovations-in-human-genetic-modification
#7
Steven M Weisberg, Daniel Badgio, Anjan Chatterjee
The potential to genetically modify human germlines has reached a critical tipping point with recent applications of CRISPR-Cas9. Even as researchers, clinicians, and ethicists weigh the scientific and ethical repercussions of these advances, we know virtually nothing about public attitudes on the topic. Understanding such attitudes will be critical to determining the degree of broad support there might be for any public policy or regulation developed for genetic modification research. To fill this gap, we gave an online survey to a large (2,493 subjects) and diverse sample of Americans...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28583200/high%C3%A2-quality-clinical%C3%A2-grade-human-embryonic-stem-cell-lines-derived-from-fresh-discarded-embryos
#8
Jinpei Ye, Nicola Bates, Despina Soteriou, Lisa Grady, Clare Edmond, Alex Ross, Alan Kerby, Philip A Lewis, Tope Adeniyi, Ronnie Wright, Kay V Poulton, Marcus Lowe, Susan J Kimber, Daniel R Brison
BACKGROUND: Human embryonic stem cells (hESCs) hold tremendous promise for cell replacement therapies for a range of degenerative diseases. In order to provide cost-effective treatments affordable by public health systems, HLA-matched allogeneic tissue banks of the highest quality clinical-grade hESCs will be required. However only a small number of existing hESC lines are suitable for clinical use; they are limited by moral and ethical concerns and none of them apply Good Manufacturing Practice (GMP) standards to the earliest and critical stages of gamete and embryo procurement...
June 5, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28580132/case-report-making-a-diagnosis-of-familial-renal-disease-clinical-and-patient-perspectives
#9
Zahra Iqbal, John A Sayer
BACKGROUND: A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases. METHODS: Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing. RESULTS: Through next generation sequencing approaches, we identified a pathogenic mutation in TRPC6, the underlying cause of the phenotype...
2017: F1000Research
https://www.readbyqxmd.com/read/28577349/emerging-issues-in-disorders-differences-of-sex-development-dsd
#10
Margaret P Adam, Eric Vilain
Disorders/Differences of Sex Development (DSD), as defined by the 2006 Consensus Statement, are "congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical." They represent a spectrum of chronic medical conditions collectively affecting about 1% of the population and are associated with increased risk of infertility, cancer, and psychosocial distress. Clinical management in DSD is subject to multiple controversies about gender assignment, the timing and appropriateness of genital surgery and the approach to disclosure...
June 3, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28567486/xenobiology-state-of-the-art-ethics-and-philosophy-of-new-to-nature-organisms
#11
Markus Schmidt, Lei Pei, Nediljko Budisa
The basic chemical constitution of all living organisms in the context of carbon-based chemistry consists of a limited number of small molecules and polymers. Until the twenty-first century, biology was mainly an analytical science and has now reached a point where it merges with engineering science, paving the way for synthetic biology. One of the objectives of synthetic biology is to try to change the chemical compositions of living cells, that is, to create an artificial biological diversity, which in turn fosters a new sub-field of synthetic biology, xenobiology...
June 1, 2017: Advances in Biochemical Engineering/biotechnology
https://www.readbyqxmd.com/read/28565902/the-significance-of-genetics-in-pathophysiologic-models-of-premature-birth
#12
Jose Uberos
Prematurity is a major health problem in all countries, especially in certain ethic groups and increasing recurrence imply the influence of genetic factors. Published genetic polymorphisms are identified in relation to the 4 pathophysiological models of prematurity described: Chorioamniotic-decidual inflammation, premature contraction pathway, decidual haemorrhage and susceptibility to environmental toxins. 240 articles are identified, 52 articles are excluded because they are not original, not written in English or duplicated...
May 31, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28556800/disease-prevention-an-opportunity-to-expand-edible-plant-based-vaccines
#13
REVIEW
Christopher Concha, Raúl Cañas, Johan Macuer, María José Torres, Andrés A Herrada, Fabiola Jamett, Cristian Ibáñez
The lethality of infectious diseases has decreased due to the implementation of crucial sanitary procedures such as vaccination. However, the resurgence of pathogenic diseases in different parts of the world has revealed the importance of identifying novel, rapid, and concrete solutions for control and prevention. Edible vaccines pose an interesting alternative that could overcome some of the constraints of traditional vaccines. The term "edible vaccine" refers to the use of edible parts of a plant that has been genetically modified to produce specific components of a particular pathogen to generate protection against a disease...
May 30, 2017: Vaccines
https://www.readbyqxmd.com/read/28555050/a-three-year-follow-up-study-of-antibiotic-and-metal-residues-antibiotic-resistance-and-resistance-genes-focusing-on-kshipra-a-river-associated-with-holy-religious-mass-bathing-in-india-protocol-paper
#14
Vishal Diwan, Manju Purohit, Salesh Chandran, Vivek Parashar, Harshada Shah, Vijay K Mahadik, Cecilia Stålsby Lundborg, Ashok J Tamhankar
BACKGROUND: Antibiotic resistance (ABR) is one of the major health emergencies for global society. Little is known about the ABR of environmental bacteria and therefore it is important to understand ABR reservoirs in the environment and their potential impact on health. METHOD/DESIGN: Quantitative and qualitative data will be collected during a 3-year follow-up study of a river associated with religious mass-bathing in Central India. Surface-water and sediment samples will be collected from seven locations at regular intervals for 3 years during religious mass-bathing and in absence of it to monitor water-quality, antibiotic residues, resistant bacteria, antibiotic resistance genes and metals...
May 29, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28548558/the-role-of-genetic-testing-in-epilepsy-diagnosis-and-management
#15
Yvonne G Weber, Saskia Biskup, Katherine L Helbig, Sarah von Spiczak, Holger Lerche
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing...
May 26, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28545508/open-label-versus-double-blind-placebo-treatment-in-irritable-bowel-syndrome-study-protocol-for-a-randomized-controlled-trial
#16
Sarah Ballou, Ted J Kaptchuk, William Hirsch, Judy Nee, Johanna Iturrino, Kathryn T Hall, John M Kelley, Vivian Cheng, Irving Kirsch, Eric Jacobson, Lisa Conboy, Anthony Lembo, Roger B Davis
BACKGROUND: Placebo medications, by definition, are composed of inactive ingredients that have no physiological effect on symptoms. Nonetheless, administration of placebo in randomized controlled trials (RCTs) and in clinical settings has been demonstrated to have significant impact on many physical and psychological complaints. Until recently, conventional wisdom has suggested that patients must believe that placebo pills actually contain (or, at least, might possibly contain) active medication in order to elicit a response to placebo...
May 25, 2017: Trials
https://www.readbyqxmd.com/read/28543738/crispr-editing-in-biological-and-biomedical-investigation
#17
Xing-Da Ju, Jing Xu, Zhong Sheng Sun
The CRISPR (clustered regularly interspaced short palindromic repeat)-Cas (CRISPR--associated protein) system, a prokaryotic RNA-based adaptive immune system against viral infection, is emerging as a powerful genome editing tool in broad research areas. To further improve and expand its functionality, various CRISPR delivery strategies have been tested and optimized, and key CRISPR system components such as Cas protein have been engineered with different purposes. Benefiting from more in-depth understanding and further development of CRISPR, versatile CRISPR-based platforms for genome editing have been rapidly developed to advance investigations in biology and biomedicine...
May 20, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28543657/ethical-principles-process-and-the-work-of-bioethics-commissions
#18
Daniel P Sulmasy
Shortly after the Presidential Commission for the Study of Bioethical Issues was constituted in 2010 and days before the commission members were to join a conference call to discuss possible topics for their deliberation, Craig Venter held a press conference announcing that his lab had created a synthetic chromosome for a species of mycoplasma and had inserted this genetic material into organisms of another species of mycoplasma (the genes of which had been deactivated), transforming the host species into the donor species...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28543411/crowdsourcing-the-moral-limits-of-human-gene-editing
#19
Eric T Juengst
In 2015, a flourish of "alarums and excursions" by the scientific community propelled CRISPR/Cas9 and other new gene-editing techniques into public attention. At issue were two kinds of potential gene-editing experiments in humans: those making inheritable germ-line modifications and those designed to enhance human traits beyond what is necessary for health and healing. The scientific consensus seemed to be that while research to develop safe and effective human gene editing should continue, society's moral uncertainties about these two kinds of experiments needed to be better resolved before clinical trials of either type should be attempted...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28534296/anticipating-the-ethical-challenges-of-psychiatric-genetic-testing
#20
REVIEW
Paul S Appelbaum, Shawna Benston
PURPOSE OF REVIEW: Genetic testing for mental illness is likely to become increasingly prevalent as the science behind it is refined. This article identifies anticipated ethical challenges for patients, psychiatrists, and genetic counselors and makes recommendations for addressing them. RECENT FINDINGS: Many of the ethical challenges of psychiatric genetic testing are likely to stem from failures to comprehend the nature and implications of test results. Recent studies have identified gaps in the knowledge base of psychiatrists and genetic counselors, which limit their abilities to provide patients with appropriate education...
July 2017: Current Psychiatry Reports
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