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Genetics and ethics

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https://www.readbyqxmd.com/read/28229934/novel-and-functional-atg12-gene-variants-in-sporadic-parkinson-s-disease
#1
Yuequn Li, Jian Huang, Shuchao Pang, Haihua Wang, Aimei Zhang, Robert G Hawley, Bo Yan
Parkinson's disease (PD) is a common and progressive neurodegenerative disease, including familial and sporadic cases. To date, genetic causes for sporadic PD, majority of PD cases, remain largely unknown. Accumulating evidence indicates that dysfunctional autophagy, a highly conserved cellular process, is involved in the PD pathogenesis. We speculated that changed expression levels of autophagy-related genes (ATG) may contribute to PD development. Previously, we have genetically analyzed ATG5 and ATG7 genes in sporadic PD patients and identified several functional DNA sequence variants (DSVs)...
February 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28220489/international-survey-on-the-use-and-welfare-of-zebrafish-danio-rerio-in-research
#2
K Lidster, G D Readman, M J Prescott, S F Owen
A survey was conducted regarding zebrafish Danio rerio use for scientific research with a focus on: anaesthesia and euthanasia; housing and husbandry; breeding and production; refinement opportunities. A total of 98 survey responses were received from laboratories in 22 countries in Europe, North America, South America, Asia and Australia. There appears a clear and urgent need to identify the most humane methods of anaesthesia and euthanasia. Aversive responses to MS-222 were widely observed raising concerns about the use of this anaesthetic for D...
February 20, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/28219287/overview-of-the-moral-status-of-ips-cells
#3
Andreia Martins Martinho
The production of induced pluripotent stem (iPS) cells in 2006 by Takahashi and Yamanaka was a major breakthrough in stem cell research. IPS cells technology holds great promise for cell therapy, disease modelling, and drug testing, but it poses ethical questions concerning the moral status of somatic cells, which can re-gain pluripotency (iPS cells). This article provides an overview of the arguments that substantiate the debate on the moral assessment of iPS cells: potentiality argument; relational properties/standard view; and genetic basis for moral status...
July 2016: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28211559/behavioral-genetics-in-polish-print-news-media-between-2000-and-2014
#4
Jan Domaradzki
OBJECTIVES: The aim of this paper is to describe how Polish print news media frame relations between genetics and human behaviors and what images of behavioral genetics dominate in press discourse. METHODS: A content and frame analysis of 72 print news articles about behavioral genetics published between 2000 and 2014 in four major Polish weekly magazines: "Polityka", "Wprost", "Newsweek" and "Przekrój" was conducted. RESULTS: Twenty one different behaviors were mentioned in the sample and six major analytic frames were identified: essentialist, materialistic, deterministic, probabilistic, optimistic and pessimistic...
December 23, 2016: Psychiatria Polska
https://www.readbyqxmd.com/read/28202021/-i-passed-the-test-evidence-of-diagnostic-misconception-in-the-recruitment-of-population-controls-for-an-h3africa-genomic-study-in-cape-town-south-africa
#5
Francis Masiye, Bongani Mayosi, Jantina de Vries
BACKGROUND: Advances in genetic and genomic research have introduced challenges in obtaining informed consent for research in low and middle-income settings. However, there are only few studies that have explored challenges in obtaining informed consent in genetic and genomic research in Africa and none in South Africa. To start filling this gap, we conducted an empirical study to investigate the efficacy of informed consent procedures for an H3Africa genomic study on Rheumatic Heart Disease (RHDGen) at the University of Cape Town in South Africa...
February 15, 2017: BMC Medical Ethics
https://www.readbyqxmd.com/read/28199003/applications-of-induced-pluripotent-stem-cell-technologies-in-spinal-cord-injury
#6
REVIEW
Narihito Nagoshi, Hideyuki Okano
Numerous basic research studies have suggested the potential efficacy of neural precursor cell (NPC) transplantation in spinal cord injury (SCI). However, in most such studies the origin of the cells used was mainly fetal tissue or embryonic stem cells, both of which carry potential ethical concerns with respect to clinical use. The development of induced pluripotent stem cells (iPSCs) opened a new path toward regenerative medicine for SCI. iPSCs can be generated from somatic cells by induction of transcription factors, and induced to differentiate into NPCs with characteristics of cells of the central nervous system...
February 15, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28190696/ethical-issues-in-research
#7
REVIEW
Raul Artal, Sheldon Rubenfeld
Biomedical research is currently guided by ethical standards that have evolved over many centuries. Historical and political events, social and legal considerations, and continuous medical and technological advances have led to the prevailing research ethics and practice. Currently, patients and research subjects have complete autonomy while under medical care or when volunteering as research subjects. Enrolling volunteers in human subjects research includes a detailed and meaningful informed consent process that follows the cardinal principles of ethics: autonomy, beneficence, nonmaleficence, and justice...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28182308/mr-enterography-in-nonresponsive-adult-celiac-disease-correlation-with-endoscopic-pathologic-serologic-and-genetic-features
#8
Amir Reza Radmard, Amir Pejman Hashemi Taheri, Elham Salehian Nik, Soheil Kooraki, Shadi Kolahdoozan, Babak Mirminachi, Masoud Sotoudeh, Golnaz Ekhlasi, Reza Malekzadeh, Bijan Shahbazkhani
PURPOSE: To assess small bowel abnormalities on magnetic resonance enterography (MRE) in adult patients with nonresponsive celiac disease (CD) and investigate their associations with endoscopic, histopathologic, serologic, and genetic features. MATERIALS AND METHODS: This prospective study was carried out between September 2012 and August 2013. After approval by the Ethics Committee of our institution, informed consent was acquired from all participants. Forty consecutive patients with nonresponsive CD, aged 17-76 years, underwent MRE using a 1...
February 9, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28181042/should-we-change-targets-and-methods-of-early-intervention-in-autism-in-favor-of-a-strengths-based-education
#9
Laurent Mottron
Early intensive behavioral intervention (EIBI) and its recent variant, naturalist developmental behavioral intervention (NDBI) aim to increase socialization and communication, and to decrease repetitive and challenging behaviors in preschool age autistic children. These behaviorist techniques are based on the precocity and intensity of the intervention, face-to-face interaction, errorless learning, and information fragmentation. Once considered to be "scientifically proven", the efficacy of these approaches has been called into question in the last decade due to poor-quality data, small effects, low cost-efficiency, and the evolution of ethical and societal standards...
February 8, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#10
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28176639/personalized-medicine-in-the-paediatric-population-the-balance-between-pharmacogenetics-progress-and-bioethics
#11
Stefania Schiavone, Margherita Neri, Cristoforo Pomara, Irene Riezzo, Luigia Trabace, Emanuela Turillazzi
Personalized medicine (PM) is becoming increasingly important in contemporary clinical and research scenarios. In the context of PM, pharmacogenomics and pharmacogenetics are aimed at the genetic personalization of drug response. Extrinsic and intrinsic factors may explain inter-individual variability in drug response. Among such factors, age seems to specifically intervene to modulate drug response since normal developmental changes may influence the exposure-response relation. Consequently, the potential benefit of pharmacogenomics (PGx) in the paediatric population is considerable...
February 7, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28171783/attitudes-regarding-the-national-forensic-dna-database-survey-data-from-the-general-public-prison-inmates-and-prosecutors-offices-in-the-republic-of-serbia
#12
Smilja Teodorović, Dragan Mijović, Una Radovanović Nenadić, Marina Savić
Worldwide, the establishment of national forensic DNA databases has transformed personal identification in the criminal justice system over the past two decades. It has also stimulated much debate centering on ethical issues, human rights, individual privacy, lack of safeguards and other standards. Therefore, a balance between effectiveness and intrusiveness of a national DNA repository is an imperative and needs to be achieved through a suitable legal framework. On its path to the European Union (EU), the Republic of Serbia is required to harmonize its national policies and legislation with the EU...
January 21, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28167448/lessons-to-be-learned-from-a-contentious-challenge-to-mainstream-radiobiological-science-the-linear-no-threshold-theory-of-genetic-mutations
#13
Jan Beyea
There are both statistically valid and invalid reasons why scientists with differing default hypotheses can disagree in high-profile situations. Examples can be found in recent correspondence in this journal, which may offer lessons for resolving challenges to mainstream science, particularly when adherents of a minority view attempt to elevate the status of outlier studies and/or claim that self-interest explains the acceptance of the dominant theory. Edward J. Calabrese and I have been debating the historical origins of the linear no-threshold theory (LNT) of carcinogenesis and its use in the regulation of ionizing radiation...
February 4, 2017: Environmental Research
https://www.readbyqxmd.com/read/28160876/neurology-individualized-medicine-when-to-use-next-generation-sequencing-panels
#14
REVIEW
Christopher J Klein, Tatiana M Foroud
Next-generation sequencing (NGS) is increasingly being applied to clinical testing. This practice is predicted to grow especially in neurology clinics because many of their patients have monogenetic causes for their "diagnostic odyssey." The cost of sequencing has been steadily decreasing, but the cost of DNA sequencing is a minor part of the total cost. Downstream data analysis, storage, and interpretation account for most of the total expense. In patients with nonspecific neurologic disorders in which an extensive number of genetic differential diagnoses exist, whole-genome sequencing (WGS) or whole-exome sequencing (WES) has shown promise in the identification of genetic causes...
February 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28157165/stem-cell-therapies-in-retinal-disorders
#15
REVIEW
Aakriti Garg, Jin Yang, Winston Lee, Stephen H Tsang
Stem cell therapy has long been considered a promising mode of treatment for retinal conditions. While human embryonic stem cells (ESCs) have provided the precedent for regenerative medicine, the development of induced pluripotent stem cells (iPSCs) revolutionized this field. iPSCs allow for the development of many types of retinal cells, including those of the retinal pigment epithelium, photoreceptors, and ganglion cells, and can model polygenic diseases such as age-related macular degeneration. Cellular programming and reprogramming technology is especially useful in retinal diseases, as it allows for the study of living cells that have genetic variants that are specific to patients' diseases...
February 2, 2017: Cells
https://www.readbyqxmd.com/read/28153006/regulation-of-genomic-and-biobanking-research-in-africa-a-content-analysis-of-ethics-guidelines-policies-and-procedures-from-22-african-countries
#16
Jantina de Vries, Syntia Nchangwi Munung, Alice Matimba, Sheryl McCurdy, Odile Ouwe Missi Oukem-Boyer, Ciara Staunton, Aminu Yakubu, Paulina Tindana
BACKGROUND: The introduction of genomics and biobanking methodologies to the African research context has also introduced novel ways of doing science, based on values of sharing and reuse of data and samples. This shift raises ethical challenges that need to be considered when research is reviewed by ethics committees, relating for instance to broad consent, the feedback of individual genetic findings, and regulation of secondary sample access and use. Yet existing ethics guidelines and regulations in Africa do not successfully regulate research based on sharing, causing confusion about what is allowed, where and when...
February 2, 2017: BMC Medical Ethics
https://www.readbyqxmd.com/read/28146134/next-generation-sequencing-in-oncology-genetic-diagnosis-risk-prediction-and-cancer-classification
#17
REVIEW
Rick Kamps, Rita D Brandão, Bianca J van den Bosch, Aimee D C Paulussen, Sofia Xanthoulea, Marinus J Blok, Andrea Romano
Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clinical practice today. This review describes the recent technological developments in NGS applied to the field of oncology. A number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA-sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequencing to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy...
January 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28140662/pediatric-issues-in-return-of-results-and-incidental-findings-weighing-autonomy-and-best-interests
#18
Ingrid A Holm
Nowhere are the ethical issues in genomic research more complex than in pediatrics. Balancing the sometime conflicting autonomy of the parent and the child, and the best interest of the family and the child, brings up many challenging issues. Addressing this balance, especially in the context of the child's developing maturity and comprehension, requires deep analysis and discussion. Issues discussed include the impact of genetic information on the family, parental versus the child's autonomy, the best interests of the child versus the family, potential limitations on the parents' right to know or not know information about their child, and changing role of the developing child in return of research results...
January 31, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28135403/rapid-cell-based-assay-for-detection-and-quantification-of-active-staphylococcal-enterotoxin-type-d
#19
Reuven Rasooly, Paula M Do, Bradley J Hernlem
Food poisoning by Staphylococcus aureus is a result of ingestion of Staphylococcal enterotoxins (SEs) produced by this bacterium and is a major source of foodborne illness. Staphylococcal enterotoxin D (SED) is one of the predominant enterotoxins recovered in Staphylococcal food poisoning incidences, including a recent outbreak in Guam affecting 300 children. Current immunology methods for SED detection cannot distinguish between the biologically active form of the toxin, which poses a threat, from the inactive form, which poses no threat...
January 30, 2017: Journal of Food Science
https://www.readbyqxmd.com/read/28132577/unsolved-challenges-in-pediatric-whole-exome-sequencing-a-literature-analysis
#20
Gabrielle Bertier, Karine Sénécal, Pascal Borry, Danya F Vears
Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics, particularly to diagnose patients with rare diseases, it also raises a number of ethical, legal and social issues. In order to identify what challenges were directly foreseen by technology users, we performed a systematic review of the literature. In this paper, we focus on recent publications related to the use of WES in the pediatric context and analyze the most prominent challenges raised by technology users...
January 28, 2017: Critical Reviews in Clinical Laboratory Sciences
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