scholarly journals Determinism and free will in the age of genetics: Theoretical-legal concerns about predictive genetic tests

2012 ◽  
Vol 23 (4) ◽  
pp. 57-70
Author(s):  
Silvia Salardi

The paper deals with the use of predictive genetic tests in medical research. I limit my discussion to those advances in genetics which try to overcome the limits represented by our genetic make-up, in particular by gene mutations that lead, or could lead, to the development of genetic diseases. Besides the ethical issues concerning the topic of the current discussion, the reader will also find an evaluation of the legal provisions elaborated at the different levels of the legal order (international, European, and national). The aim of this evaluation is to find out which model of Law is being adopted in bioethical issues like the one discussed in this paper. The paper underlines and argues how Law can contribute (and has already contributed at the different levels: International, European, and national) to value and to spread an ethics of responsibility.

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Hazem Kaheel ◽  
Andreas Breß ◽  
Mohamed A. Hassan ◽  
Aftab Ali Shah ◽  
Mutaz Amin ◽  
...  

Background. Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods. We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations. Results. The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%). Conclusion. The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.


2017 ◽  
Vol 28 (1-2) ◽  
pp. 28-35 ◽  
Author(s):  
B. A. Baranovski

Nowadays, bioecological characteristics of species are the basis for flora and vegetation studying on the different levels. Bioecological characteristics of species is required in process of flora studying on the different levels such as biotopes or phytocenoses, floras of particular areas (floras of ecologically homogeneous habitats), and floras of certain territories. Ramensky scale is the one of first detailed ecological scales on plant species ordination in relation to various environmental factors; it developed in 1938 (Ramensky, 1971). A little later (1941), Pogrebnyak’s scale of forest stands was proposed. Ellenberg’s system developed in 1950 (Ellenberg, 1979) and Tsyganov’s system (Tsyganov, 1975) are best known as the systems of ecological scales on vascular plant species; these systems represent of habitat detection by ecotopic ecomorphs of plant species (phytoindication). Basically, the system proposed by Alexander Lyutsianovich Belgard was the one of first system of plant species that identiified ectomorphs in relation to environmental factors. As early as 1950, Belgard developed the tabulated system of ecomorphs using the Latin ecomorphs abbreviation; he also used the terminology proposed in the late 19th century by Dekandol (1956) and Warming (1903), as well as terminology of other authors. The article analyzes the features of Belgard’s system of ecomorphs on vascular plants. It has certain significance and advantages over other systems of ecomorphs. The use of abbreviated Latin names of ecomorphs in tabular form enables the use shortened form of ones. In the working scheme of Belgard’s system of ecomorphs relation of species to environmental factors are represented in the abbreviated Latin alphabetic version (Belgard, 1950). Combined into table, the ecomorphic analysis of plant species within association (ecological certification of species), biotope or area site (water area) gives an explicit pattern on ecological structure of flora within surveyed community, biotope or landscape, and on environmental conditions. Development and application by Belgrard the cenomorphs as «species’ adaptation to phytocenosis as a whole» were completely new in the development of systems of ecomorphs and, in this connection, different coenomorphs were distinguished. Like any concept, the system of ecomorphs by Belgard has the possibility and necessity to be developed and added. Long-time researches and analysis of literature sources allow to propose a new coenomorph in the context of Belgard’s system of ecomorphs development: silvomargoant (species of forest margin, from the Latin words margo – edge, boundary (Dvoretsky, 1976), margo – margin, ad margins silvarum – along the deciduous forest margins). As an example of ecomorphic characterization of species according to the system of ecomorphs by Belgard (when the abbreviated Latin ecomorph names are used in tabular form and the proposed cenomorph is used), it was given the part of the table on vascular plants ecomorphs in the National Nature Park «Orelsky» (Baranovsky et al). The Belgard’s system of ecomorphs is particularly convenient and can be successfully applied to data processing in the ecological analysis of the flora on wide areas with significant species richness, and the proposed ecomorph will be another necessary element in the Belgard’s system of ecomorphs. 


2020 ◽  
Vol 7 (2020) (2) ◽  
pp. 1-11
Author(s):  
Milson Xavier ◽  

he Coronavirus pandemic that spread around the world in the first half of 2020 brought impacts to society that will be registered for an extended period. In this paper, the effects showed an impossibility to maintain the progress of mineral research made by professionals in the academic and scientific areas. In an attempt to find justifications in the legal order of the mineral industry, to continue the work, it was faced with imposing environmental legislation that made a claim even more difficult. It was found that the Mining Code in place no longer regulates the activities of extraction of mineral specimens for museums, educational establishments and other scientific purposes. This left the legal security tied only to the interpretation of legal provisions in articles of the code and its regulation, as well as procedure manuals for environmental inspection bodies, and therefore, subject to the consequences of legal disputes with final decisions in higher courts, given the claim of superiority of the environmental issue over mining. Keywords: Coronavirus, pandemic, environmental legislation, mining code


2021 ◽  
Vol 37 (01) ◽  
pp. 045-052
Author(s):  
Mario Bazanelli Junqueira Ferraz ◽  
Guilherme Constante Preis Sella

AbstractNasal dorsal preservation surgery was described more than 100 years ago, but recently has gained prominence. Our objective is to show the surgical technique, the main indications and counterindications, and the complications. It is a technique that does not cause the detachment of the upper lateral cartilage (ULC) from the nasal septum, and has the main following sequence: preparation of the septum and its resection can be at different levels (high or low, i.e., SPAR [septum pyramidal adjustment and repositioning] A or B); preparation of the pyramid; transversal osteotomy; lateral osteotomy(s); and septopyramidal adjustment. The result is a nose with a lower radix than the original, a deprojection of the nasal dorsum tending to maintain its original shape; an increase in the interalar distance (IAD) and enlargement of the nasal middle ⅓; and loss of projection of the nasal tip and roundness of the nostrils. Thus, the ideal candidate is the one who benefits from such side effects, that is: tension nose, that is, high radix with projected dorsum, projected anterior nasal septal angle (ANSA), narrow middle ⅓, narrow IAD, thin nostrils and straight perpendicular plate of the ethmoid (PPE), and, depending on the characteristics, the deviated nose. The counterindications are low radix, irregularities in the nasal dorsum, ANSA lower than rhinion, and a wide middle ⅓. And the main stigmas are: a nose with a very low radix, middle ⅓ enlarged, residual hump, and saddling of the supratip area. Other issues of this technique are: the shape of the radix; the need or not to remove PPE; wide dorsum; irregular dorsum; ANSA lower than rhinion; weak cartilages; long nasal bone; deviated PPE; and obsessive patient. We conclude that this is a great technique for noses with characteristics suitable to it; care must be taken with the stigmas it can cause.


2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Zhen Li ◽  
Sumin Gu ◽  
Yumeng Quan ◽  
Kulandaiappan Varadaraj ◽  
Jean X. Jiang

AbstractCongenital cataracts are associated with gene mutations, yet the underlying mechanism remains largely unknown. Here we reported an embryonic chick lens model that closely recapitulates the process of cataract formation. We adopted dominant-negative site mutations that cause congenital cataracts, connexin, Cx50E48K, aquaporin 0, AQP0R33C, αA-crystallin, CRYAA R12C and R54C. The recombinant retroviruses containing these mutants were microinjected into the occlusive lumen of chick lenses at early embryonic development. Cx50E48K expression developed cataracts associated with disorganized nuclei and enlarged extracellular spaces. Expression of AQP0R33C resulted in cortical cataracts, enlarged extracellular spaces and distorted fiber cell organization. αA crystallin mutations distorted lens light transmission and increased crystalline protein aggregation. Together, retroviral expression of congenital mutant genes in embryonic chick lenses closely mimics characteristics of human congenital cataracts. This model will provide an effective, reliable in vivo system to investigate the development and underlying mechanism of cataracts and other genetic diseases.


1996 ◽  
Vol 22 (1) ◽  
pp. 109-134
Author(s):  
Michael M.J. Lin

“A wise man can hear profit in the wind.”—Pel, quoting the Ferengi Rules of AcquisitionThe expansive biotechnology field includes many facets of medical research, from drug discovery and design, to gene therapy and the diagnosis of genetic diseases, to the use of deoxyribonucleic acid (DNA) evidence to identify individuals and genetic characteristics. The biotechnology industry requires a readily available supply of biological raw materials; much of current research is founded on cells, tissues, organs, fetal tissues and placentas, and other samples derived from human donors. However, this growing need for raw materials presents many economic, social, and ethical issues to society, researchers, and the existing legal regime. Furthermore, because courts and legislatures fail to provide a clear national rule regarding biological materials, the resulting legal uncertainties chill research and investment. Although very few cases address property rights in a person’s organs, tissues, and genetic material, the issues of autonomy and privacy involved evoke analogies to deep-seated issues such as slavery, the freezing of embryos, and abortion.


2021 ◽  
Vol 13 (2) ◽  
pp. 485
Author(s):  
Blanca L. Díaz Mariño ◽  
Frida Carmina Caballero-Rico ◽  
Ramón Ventura Roque Hernández ◽  
José Alberto Ramírez de León ◽  
Daniel Alejandro González-Bandala

Understanding the value of research for society has become a priority, and several methodologies have been developed to assess the social impact of research. This study aimed to determine how productive interactions are developed during the execution of research projects. A retrospective study was conducted on 33 projects from 1999 to 2020. Semi-structured interviews with the technical managers were conducted to analyze how different actors of the project—researchers, government officials, and civil society and private sector stakeholders—were involved, illustrating how productive interactions occur in specific biodiversity contexts. The results revealed different levels and intensities of productive interactions; on the one hand, three projects involved all actors; eight involved researchers outside the institution; and 25 involved community members. The number of participants ranged from 2 to 37. All research evaluated had a disciplinary orientation. The type and time of interactions with other interested parties depended on the amount of funding, project type, project duration, and, significantly, on the profile of the technical manager. The importance of assessing and valuing productive interactions was identified as a fundamental element in promoting the social impact of research, as well as integrating inter- or multidisciplinary projects that impact the conservation of socio-ecological systems.


2021 ◽  
Author(s):  
Maria Koromina ◽  
Vasileios Fanaras ◽  
Gareth Baynam ◽  
Christina Mitropoulou ◽  
George P Patrinos

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.


2006 ◽  
Vol 58 (3) ◽  
pp. 272-293 ◽  
Author(s):  
Dusko Dimitrijevic

In this study the author attaches a great importance to the theoretical examination of the concept of the New International Legal Order that was embodied in the last decades of the 20th century. The starting point for that reflection is the dissolution of the SFR Yugoslavia that illustrates one of the fundamental legal precedents. Reminding that the basic principle for the post-modern State behavior must be the one that includes minimal disturbance of the existing international legal relations, the author stresses that "the Yugoslav case" was customized in the way to respond to the new reality where the principle of effectiveness played an essential role in valuation of the statehood. It could also be one of the greatest catalysts for all further 'development rules' of international law.


Author(s):  
Mohammad Bagher Hashemi-Soteh ◽  
Ali Vali Nejad ◽  
Golamreza Ataei ◽  
Dariush Ghasemi ◽  
Rita Siamy

Background: Genetic testing has been widely introduced for many hereditary disorders. While the attitudes towards these facilities have been evaluated in many countries, there are only a few reports on the knowledge of and the orientation among Iranians. Objective: The current study assesses the attitudes and knowledge of pre-marriage individuals toward the availability and use of genetic tests. Materials and Methods: A comprehensive questionnaire was distributed among 408 marrying individuals. The questions addressed the demographic characteristics along the registration of participant’s knowledge, education, and attitude toward genetic testing. The individuals were divided into three groups based on their knowledge: 1) Scored above 80 to 100 were defined as “good” 2) 60 to 80 as “average” 3) less than 60 as “poor” knowledge. Result: Most participants (86%) believed consanguineous marriages increase the risk of genetic diseases; 82.3% knew that thalassemia is a type of genetic disease, only 33.3% could distinguish prenatal diagnosis (PND) from other laboratory tests. The relationship between the participants’ knowledge and their level of education was significant (r = 0.78, p < 0.001), age (r =–0.16, p < 0.01), and urbanity (p < 0.01). A prominent relationship was observed between the knowledge (r = 0.64, p < 0.001) or education (r = 0.62, p < 0.001) and people’s desire to use the genetic tests before the wedding ceremony. No significant correlations were found between the participant’s attitude and their ages/urbanity. Most of the individuals agreed to arrange a genetic counseling before marriage (0.94%). Conclusion: This study revealed that most individuals were interested in using genetic counseling services and genetic tests before marriage.


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