In 2015 the United Kingdom (UK) became the first nation to legalize egg and zygotic nuclear transfer procedures using mitochondrial replacement techniques (MRTs) to prevent the maternal transmission of serious mitochondrial DNA diseases to offspring. These techniques are a form of human germline genetic modification and can happen intentionally if female embryos are selected during the MRT clinical process, either through sperm selection or preimplantation genetic diagnosis (PGD). In the same year, an MRT was performed by a (...) United States (U.S.)-based physician team. This experiment involved a cross-border effort: the MRT procedure per se was carried out in the US, and the embryo transfer in Mexico. The authors examine the ethics of MRTs from the standpoint of genetic relatedness and gender implications, in places that lack adequate laws and regulation regarding assisted reproduction. Then, we briefly examine whether MRTs can be justified as a reproductive option in the US and Mexico, after reassessing their legalization in the UK. We contend that morally inadequate and ineffective regulations regarding egg donation, PGD, and germline genetic modifications jeopardize the ethical acceptability of the implementation of MRTs, suggesting that MRTs are currently difficult to justify in the US and Mexico. In addition to relevant regulation, the initiation and appropriate use of MRTs in a country require a child-centered follow-up policy and more evidence for its safety. (shrink)

Abstract Background The first live birth following the use of a new reproductive technique, maternal spindle transfer (MST), which is a mitochondrial replacement technique (MRT), was accomplished by dividing the execution of the MST procedure between two countries, the USA and Mexico. This was done in order to avoid US legal restrictions on this technique. -/- Sources of data Academic articles, news articles, documents obtained through freedom of information requests, laws, regulations and national reports. -/- Areas of agreement MRTs (...) are new reproductive techniques that present novel ethical and legal challenges, since genetic material from three people is employed to create a child. -/- Areas of controversy Could the first MST procedure that culminated in a live birth negatively impact reproductive medicine in Mexico? -/- Growing points The USA and Mexico need specific and clear legislation on MRTs, in order for such techniques not to be governed by prior existing legislation on assisted reproduction that is inadequate for dealing with the new challenges that these techniques present. -/- Areas timely for developing research There is a pressing need for work to be done on the international governance of new reproductive techniques. (shrink)

Mitochondrial DNA (mtDNA) diseases are a group of neuromuscular diseases that often cause suffering and premature death. New mitochondrial replacement techniques (MRTs) may offer women with mtDNA diseases the opportunity to have healthy offspring to whom they are genetically related. MRTs will likely be ready to license for clinical use in the near future and a discussion of the ethics of the clinical introduction ofMRTs is needed. This paper begins by evaluating three concerns about the (...) safety of MRTs for clinical use on humans: (1) Is it ethical to use MRTs if safe alternatives exist? (2) Would persons with three genetic contributors be at risk of suffering? and (3) Can society trust that MRTs will be made available for humans only once adequate safety testing has taken place, and that MRTs will only be licensed for clinical use in a way that minimises risks? It is then argued that the ethics debate about MRTs should be reoriented towards recommendingways to reduce the possible risks of MRT use on humans. Two recommendations are made: (1) licensed clinical access to MRTs should only be granted to prospective parents if they intend to tell their children about their MRT conception by adulthood; and (2) sex selection should be used in conjunction with the clinical use ofMRTs, in order to reduce transgenerational health risks. (shrink)

What’s the basis for considering an egg donor a genetic parent but not a mitochondrial donor? I will argue that a closer look at the biological facts will not give us an answer to this question because the process by which one becomes a genetic parent, i.e., the process of reproduction, is not a concept that can be settled by looking. It is, rather, a concept in need of philosophical attention. The details of my argument will rest on recent (...) developments in biological technology, but the persuasiveness of my argument will turn on the history of another biological concept, death. Given some important similarities between the two concepts, the way in which ‘death’ evolved in the recent past can provide guidance on how we should think about ‘reproduction.’. (shrink)

Mitochondrial replacement therapy requires oocytes of women whose mitochondrial DNA will be transmitted to resultant children. These techniques are scientifically, ethically and socially controversial; it is likely that some women who donate their oocytes for general in vitro fertilisation usage would nevertheless oppose their genetic material being used in MRT. The possibility of oocytes being used in MRT is therefore relevant to oocyte donation and should be included in the consent process when applicable. In present circumstances, specific consent (...) should be obtained. However, once MRT becomes more routine, such consent could be incorporated into the general consent process for oocyte donation. The reported lack of proper consent for MRT from the oocyte donor in the first baby born via the technique is an ethical failing and should be corrected in any future practice of MRT. (shrink)

Previous studies have shown that zinc deficiency leads to apoptosis of neuronal precursor cells in vivo and in vitro. In addition to the role of p53 as a nuclear transcription factor in zinc deficient cultured human neuronal precursors (NT-2), we have now identified the translocation of phosphorylated p53 to the mitochondria and p53-dependent increases in the pro-apoptotic mitochondrial protein BAX leading to a loss of mitochondrial membrane potential as demonstrated by a 25% decrease in JC-1 red:green fluorescence ratio. (...) Disruption of mitochondrial membrane integrity was accompanied by efflux of the apoptosis inducing factor (AIF) from the mitochondria and translocation to the nucleus with a significant increase in reactive oxygen species (ROS) after 24 h of zinc deficiency. Measurement of caspase cleavage, mRNA, and treatment with caspase inhibitors revealed the involvement of caspases 2, 3, 6, and 7 in zinc deficiency-mediated apoptosis. Down-stream targets of caspase activation, including the nuclear structure protein lamin and polyADP ribose polymerase (PARP), which participates in DNA repair, were also cleaved. Transfection with a dominant-negative p53 construct and use of the p53 inhibitor, pifithrin- ␮, established that these alterations were largely dependent on p53. Together these data identify a cascade of events involving mitochondrial p53 as well as p53-dependent caspase-mediated mechanisms leading to apoptosis during zinc deficiency. (shrink)

Francis Collins had an impressive track record as a gene hunter (cystic fibrosis, neurofibromatosis, Huntington’s disease) when he was appointed Director of the Human Genome Project (HGP) in 1993. In June 2000, together with Craig Venter and President Bill Clinton, he presented the draft version of the human genome sequence to a worldwide audience during a famous press conference. And in 2009, President Barack Obama nominated him as director of the National Institutes of Health (NIH), the largest Tfunding agency for (...) biomedical research in the world. s The In 2006, Collins published his book The Language of God,3 an autobiographical account of the HGP and its scientific, historical, and societal significance, with special attention paid to the impact of the human sequence on the way we see our world and ourselves.4 Now, by way of a sequel, he has written The Language of Life. Wherea Language of God focused on the genome sequence of mankind in general, and on the HGP as a “revolution” in biomedicine, the new book, as indicated by its subtitle, is oriented towards “the revolution in personalized medicine”, the impact of the genomics revolution on the personal lives of individuals. Before subjecting Collins’ book to a closer reading, I first of all would like to explain how I will read it and from what perspective. Why is genomics in general, and the HGP and its aftermath in particular, a subject of interest to a philosopher like me? Why did I become interested in assessing the HGP and in studying the work and views of some of its key contributors? (shrink)

Abstract: Lung cancer is the top reason of cancer-associated deaths globally. Surgery is the typical treatment for early-stage non-small cell lung cancer (NSCLC). Advancement in the knowledge of the biology of non-small cell lung cancer has shown molecular evidence used for systemic cancer therapy aiming metastatic disease, with a significant impact on patients’ overall survival (OS) and eminence of life. Though, a biopsy of overt metastases is an invasive technique restricted to assured positions and not effortlessly satisfactory in the clinic. (...) The examination of peripheral blood samples of cancer patients embodies a new basis of cancer-derived material, recognized as liquid biopsy, and its constituents (circulating tumour cells (CTCS), circulating free DNA (cfDNA), exosomes, and tumour-educated platelets (TEP)) may be gotten from nearly any body liquids. These constituents have shown to imitate features of the status of both the primary and metastatic diseases, aiding the clinicians to go towards a tailored medicine. In this paper, the reasons of lung cancer will be recognized and the risk elements that initiated the increase of infection, for instance Smoking, Disclosure to secondhand smoke, Disclosure to radon gas, Disclosure to asbestos and other compounds, Family past history of lung cancer, and decrease of the spread of disease and approaches of handling and prevention of lung cancer. (shrink)

It has recently been argued that reproductive genetic manipulation technologies like mitochondrial replacement and germline CRISPR modifications cannot be said to save anyone’s life because, counterfactually, no one would suffer more or die sooner absent the intervention. The present article argues that, on the contrary, reproductive genetic manipulations may be life-saving (and, from this, have therapeutic value) under an appropriate population health perspective. As such, popular reports of reproductive genetic manipulations potentially saving lives or preventing disease are not necessarily (...) mistaken, though such terminology still requires further empirical validation. (shrink)

Precision medicine and molecular systems medicine (MSM) are highly utilized and successful approaches to improve understanding, diagnosis, and treatment of many diseases from bench-to-bedside. Especially in the COVID-19 pandemic, molecular techniques and biotechnological innovation have proven to be of utmost importance for rapid developments in disease diagnostics and treatment, including DNA and RNA sequencing technology, treatment with drugs and natural products and vaccine development. The COVID-19 crisis, however, has also demonstrated the need for systemic thinking and transdisciplinarity and the (...) limits of MSM: the neglect of the bio-psycho-social systemic nature of humans and their context as the object of individual therapeutic and population-oriented interventions. COVID-19 illustrates how a medical problem requires a transdisciplinary approach in epidemiology, pathology, internal medicine, public health, environmental medicine, and socio-economic modeling. Regarding the need for conceptual integration of these different kinds of knowledge we suggest the application of general system theory (GST). This approach endorses an organism-centered view on health and disease, which according to Ludwig von Bertalanffy who was the founder of GST, we call Organismal Systems Medicine (OSM). We argue that systems science offers wider applications in the field of pathology and can contribute to an integrative systems medicine by (i) integration of evidence across functional and structural differentially scaled subsystems, (ii) conceptualization of complex multilevel systems, and (iii) suggesting mechanisms and non-linear relationships underlying the observed phenomena. We underline these points with a proposal on multi-level systems pathology including neurophysiology, endocrinology, immune system, genetics, and general metabolism. An integration of these areas is necessary to understand excess mortality rates and polypharmacological treatments. In the pandemic era this multi-level systems pathology is most important to assess potential vaccines, their effectiveness, short-, and long-time adverse effects. We further argue that these conceptual frameworks are not only valid in the COVID-19 era but also important to be integrated in a medicinal curriculum. (shrink)

In a recent publication Tom Douglas and Katrien Devolder have proposed a new account of genetic parenthood, building on the work of Heidi Mertes. Douglas and Devolder’s account aims to solve, among other things, the question of who are the genetic parents of an individual created through somatic cell nuclear transfer (i.e. cloning): (a) the nuclear DNA provider or (b) the progenitors of the nuclear DNA provider. Such a question cannot be answered by simply appealing to the folk account of (...) genetic parenthood, according to which the genetic parents of an individual are those individuals who produced the egg and sperm, respectively, which fused to create the embryo. It cannot be so as in cloning there is no fertilization as such. In this article I critically examine Douglas and Devolder’s new account of genetic parenthood and demonstrate that it is vulnerable to counterexamples that exploit the lack of a condition specifying that genetic parents should cause a child’s coming into existence. (shrink)

Recent studies demonstrating epigenetic and developmental sensitivity to early environments, as exemplified by fields like the Developmental Origins of Health and Disease (DOHaD) and environmental epigenetics, are bringing new data and models to bear on debates about race, genetics, and society. Here, we first survey the historical prominence of models of environmental determinism in early formulations of racial thinking to illustrate how notions of direct environmental effects on bodies have been used to naturalize racial hierarchy and inequalities in the past. (...) Next, we conduct a scoping review of postgenomic work in environmental epigenetics and DOHaD that looks at the role of race/ethnicity in human health (2000–2021). Although there is substantial heterogeneity in how race is conceptualized and interpreted across studies, we observe practices that may unwittingly encourage typological thinking, including: using DNA methylation as a novel marker of racial classification; neglect of variation and reversibility within supposedly homogenous racial groups; and a tendency to label and reify whole groups as pathologized or impaired. Even in the very different politico-economic and epistemic context of contemporary postgenomic science, these trends echo deeply held beliefs in Western thinking which claimed that different environments shape different bodies and then used this logic to argue for essential differences between Europeans and non-Europeans. We conclude with a series of suggestions on interpreting and reporting findings in these fields that we feel will help researchers harness this work to benefit disadvantaged groups while avoiding the inadvertent dissemination of new and old forms of stigma or prejudice. (shrink)

Introduction: the objective of this investigation is to analyses the advances of understanding in the epigenetic processes and to extract conclusions concerning the information-based evolution from the perspective of the Informational Model of Consciousness (IMC). Analysis of epigenetic mechanisms: it is shown that the study of the epigenetic mechanisms are of increasing interest not only to discover the responsible mechanisms of some diseases, but also to observe the acquisition and transmission mechanisms of some traits to the next generation/ transgenerations, (...) without affecting the DNA sequences. These advances were especially supported by the spectacular progresses in the high technological tools like digital microfluidic techniques and semiconductor-based detection systems, allowing to apply sequencing methods of DNA and to observe its structural modifications. The specific typical steps of the epigenetic mechanisms are analysed, showing that these mechanisms could be fully described in terms of information, as signal transmission agents embodying or disembodying information in three different stages and under specific conditions, including especially the signal persistence as a main conditional epigenetic factor. Results concerning the information-assisted evolution from the perspective of IMC: the epigenetic mechanisms are discussed as a function of each component of the informational system of the organism, consisting in memory, decisional operability, emotional reactivity, metabolic driving processes, genetic transmission, genetic info-generator and the info-connection explaining the special extra-power properties of the mind. It is shown that the epigenetic mechanisms could be related to the specific functions of each informational component, mainly exhibiting five levels of integration of information as matter-related information, culminating with the stable integration in the procreation cells and transmission to the next generation. The results were extended to explain the transgenerational adaptive processes of isolated population groups. Conclusion: the epigenetic mechanisms discussed within IMC allow to understand the transgenerational adaptation as an information-assisted proces. (shrink)

Genetic engineering technologies are a subclass of the biotechnology family, and are concerned with the use of laboratory-based technologies to intervene with a given organism at the genetic level, i.e., the level of its DNA. This class of technologies could feasibly be used to treat diseases and disabilities, create disease-resistant crops, or even be used to enhance humans to make them more resistant to certain environmental conditions. However, both therapeutic and enhancement applications of genetic engineering raise serious ethical concerns. (...) This paper examines various objections to genetic engineering (as applied to humans) which have been raised in the literature, and presents a new way to frame these issues, and to look for solutions. Specifically, this paper frames genetic engineering technologies within the ‘design turn in applied ethics’ lens and thus situates these technologies as covarying with societal forces. The value sensitive design (VSD) approach to technology design is then appropriated as the conceptual framework in which genetic engineering technologies can be considered so that they can be designed for important human values. By doing so, this paper brings further nuance to the scholarship on genetic engineering technologies by discussing the sociotechnicity of genetic engineering systems rather than framing them as value-neutral tools that either support or constrain values based on how they are used. (shrink)

Abstract -/- “The Obvious Invisibility of the Relationship Between Technology and Social Values” -/- We all too often assume that technology is the product of objective scientific research. And, we assume that technology’s moral value lies in only the moral character of its user. Yet, in order to objectify technology in a manner that removes it from a moral realm, we rely on the assumption that technology is value neutral, i.e., it is independent of all contexts other than the context (...) in which it is used morally or immorally by someone. However, there is a power to technology. At the very least, technology should be seen as reflecting the values that it rises from: a developmental context. Consequently, we can make the invisible moral realm visible as we investigate the relationship between culture and technology. Pragmatically, we can trace how cultural values inform what counts as a scientific question. When we look at the 1980s epidemiological model for AIDS we see how the presuppositions within a culture frame the type of question asked, i.e. What population do we see AIDS occurring in? This question initially leads scientific research away from actual individual behaviors until a different question is asked that leads the question towards behavioral epidemiological models rather than population models. Secondly, we can make visible the circumstance that depicts that what constitutes a scientific problem has a direct relationship to the types of technologies that are developed. We can more clearly see this circular relationship between culture and technology by looking at clinical research and practice regarding heart disease. Men who were dying of diagnosed heart disease were showing symptoms of problems in large arteries of the heart. Women were also dying of heart disease, but since their large arteries were not overwhelmingly compromised they were not being properly diagnosed until recently. Different technologies and protocol were needed to “see” different symptoms in the smaller vessels of women. Thirdly, I show how the types of technology developed, in turn, can create new values or enhance preexisting values within a culture. DNA research can be used to investigate long, unanswered questions about qualitative dimensions of life in quantitative manners. Yet, long held unanswered questions about a biological basis of race or intelligence are themselves rarely challenged as uninteresting or misguided even when they are tied to prejudicial qualitative assumptions if the chance of a “scientific” answer is possible. When existing technologies or modifications of existing technologies can be used they seem to direct human reactions and behaviors in predictable ways. The technologies themselves may be said to direct culture in ethically valenced manners. (shrink)

News about the first baby born after a mitochondrial replacement technique (MRT; specifically maternal spindle transfer) broke on September 27, 2016 and, in a matter of hours, went global. Of special interest was the fact that the mitochondrial replacement procedure happened in Mexico. One of the scientists behind this world first was quoted as having said that he and his team went to Mexico to carry out the procedure because, in Mexico, there are no rules. In this paper, (...) we explore Mexico's rule of law in relation to mitochondrial replacement techniques and show that, in fact, certain instances of MRTs are prohibited at the federal level and others are prohibited at the state level. According to our interpretation of the law, the scientists behind this first successful MRT procedure broke federal regulations regarding assisted fertilization research. (shrink)

Deutsche Krankheit: eine Diagnosestellung mit Rückblick und Ausblick auf Krankheitsverlauf.

Rare diseases pose a particular priority setting problem. The UK gives rare diseases special priority in healthcare priority setting. Effectively, the National Health Service is willing to pay much more to gain a quality-adjusted life-year related to a very rare disease than one related to a more common condition. But should rare diseases receive priority in the allocation of scarce healthcare resources? This article develops and evaluates four arguments in favour of such a priority. These pertain to (...) public values, luck egalitarian distributive justice the epistemic difficulties of obtaining knowledge about rare diseases and the incentives created by a higher willingness to pay. The first is at odds with our knowledge regarding popular opinion. The three other arguments may provide a reason to fund rare diseases generously. However, they are either overinclusive because they would also justify funding for many non-rare diseases or underinclusive in the sense of justifying priority for only some rare diseases. The arguments thus fail to provide a justification that tracks rareness as such. There are no data in this work. (shrink)

The aim of this paper is to explain the emergence and use of DNA fingerprinting technology in India, noting the specific concerns faced by the Indian Legal System related to the use of this novel forensic technology in the justice process. Furthermore, the proposed construction of a National DNA Data Bank is discussed taking into consideration the challenges faced by the government in legislating the DNA Bill into law. A critical analysis of the DNA Technology (Use and Application) Regulation Bill, (...) 2019 is provided to throw light upon many ethical, social, and legal issues that need to be addressed before the operationalization of the Bill to ensure that this technology is governed democratically to protect the civil liberties of citizens. (shrink)

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and (...) information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain. (shrink)

Debates about the genuine disease status of controversial diseases rely on intuitions about a range of factors. Adopting tools from experimental philosophy, this paper explores some of the factors that influence judgments about whether low sexual desire should be considered a disease and whether it should be medically treated. Drawing in part on some assumptions underpinning a divide in the literature between viewing low sexual desire as a genuine disease and seeing it as improperly medicalized, we investigate whether health (...) and disease judgments are affected by factors such as an individual’s gender, the cause of the low desire, whether the desire is high or low, and both personal and societal valuations of the condition. Our main findings indicate that (a) the cause of a condition influences whether it is judged a disorder, (b) how the individual values the condition influences whether the condition is seen as a proper target of medical intervention, and (c) perceived dysfunction influences judgments regarding health, disorder classification, medicalization, and medical intervention. Our findings help further illuminate the intricate interplay of factors that influence judgments about health and disease in controversial conditions. (shrink)

Writers, philosophers, and theologians have oft made the comparison between being a mature human being and a masterpiece work of art or design. Employing the analogy between the creation of artistic value and the creation of full-fledged human value, this paper stakes out a middle ground between pro-choice and pro-life by considering a more general account of value and the relationship between being a potential X and a mature implementation of X's potential. I argue that the value of a potential (...) X is a function of a number of factors, most importantly, what I call the "accessibility relation" between a potential X and a full-fledged instantiation of this potential. The value is as much intrinsic to the “seed” as to some future implementation of the seed’s potential. This approach inclines even a secular humanist to reasonably confer a significant degree of moral value to a human conceptus, and even more to an early term fetus. (shrink)

Abstract: Heart diseases are increasing daily at a rapid rate and it is alarming and vital to predict heart diseases early. The diagnosis of heart diseases is a challenging task i.e. it must be done accurately and proficiently. The aim of this study is to determine which patient is more likely to have heart disease based on a number of medical features. We organized a heart disease prediction model to identify whether the person is likely to be (...) diagnosed with a heart disease or not using the medical features of the person. We used many different algorithms of machine learning such as Gaussian Mixture, Nearest Centroid, MultinomialNB, Logistic RegressionCV, Linear SVC, Linear Discriminant Analysis, SGD Classifier, Extra Tree Classifier, Calibrated ClassifierCV, Quadratic Discriminant Analysis, GaussianNB, Random Forest Classifier, ComplementNB, MLP Classifier, BernoulliNB, Bagging Classifier, LGBM Classifier, Ada Boost Classifier, K Neighbors Classifier, Logistic Regression, Gradient Boosting Classifier, Decision Tree Classifier, and Deep Learning to predict and classify the patient with heart disease. A quite helpful approach was used to regulate how the model can be used to improve the accuracy of prediction of heart diseases in any person. The strength of the proposed model was very satisfying and was able to predict evidence of having a heart disease in a particular person by using Deep Learning and Random Forest Classifier which showed a good accuracy in comparison to the other used classifiers. The proposed heart disease prediction model will enhances medical care and reduces the cost. This study gives us significant knowledge that can help us predict the person with heart disease. The dataset was collected from Kaggle depository and the model is implemented using python. (shrink)

DNA possesses a double nature: it is both an analog chemical compound and a digital carrier of information. By distinguishing these two aspects, this paper aims to reevaluate the legally and politically influential idea that the human genome forms part of the common heritage of mankind, an idea which is thought to conflict with the practice of patenting DNA. The paper explores the lines of reasoning that lead to the common heritage idea, articulates and motivates what emerges as the most (...) viable version of it, and assesses the extent to which this version conflicts with gene-patenting practices as exemplified by the U.S. regime. It concludes that the genome is best thought of as a repository of information to which humanity has a fiduciary relationship, and that on this view, the perceived conflict with gene-patenting largely dissolves. (shrink)

In the contemporary biomedical literature, every disease is considered genetic. This extension of the concept of genetic disease is usually interpreted either in a trivial or genocentrist sense, but it is never taken seriously as the expression of a genetic theory of disease. However, a group of French researchers defend the idea of a genetic theory of infectious diseases. By identifying four common genetic mechanisms (Mendelian predisposition to multiple infections, Mendelian predisposition to one infection, and major gene and polygenic (...) predispositions), they attempt to unify infectious diseases from a genetic point of view. In this article, I analyze this explicit example of a genetic theory, which relies on mechanisms and is applied only to a specific category of diseases, what we call “a regional genetic theory.” I have three aims: to prove that a genetic theory of disease can be devoid of genocentrism, to consider the possibility of a genetic theory applied to every disease, and to introduce two hypotheses about the form that such a genetic theory could take by distinguishing between a genetic theory of diseases and a genetic theory of Disease. Finally, I suggest that network medicine could be an interesting framework for a genetic theory of Disease. (shrink)

Most molecular biological concepts derive from physical chemical assumptions about the genetic code that are basically more than 40 years old. Additionally, systems biology, another quantitative approach, investigates the sum of interrelations to obtain a more holistic picture of nucleotide sequence order. Recent empirical data on genetic code compositions and rearrangements by mobile genetic elements and non-coding RNAs, together with results of virus research and their role in evolution, does not really fit into these concepts and compel a re-examination. In (...) this review we try to find an alternate hypothesis. It seems plausible now that if we look at the abundance of regulatory RNAs and persistent viruses in host genomes, we will find more and more evidence that the key players that edit the genetic codes of host genomes are consortia of RNA agents and viruses that drive evolutionary novelty and regulation of cellular processes in all steps of development. This agent-based approach may lead to a qualitative RNA sociology that investigates and identifies relevant behavioural motifs of cooperative RNA consortia. In addition to molecular biological perspectives this may lead to a better understanding of genetic code evolution and dynamics. (shrink)

Response to commentary. We are grateful to Crockett and Craigie for their interesting remarks on our paper. We accept Crockett’s claim that there is a need for caution in drawing inferences about patient groups from work on healthy volunteers in the laboratory. However, we believe that the evidence we cited established a strong presumption that many of the patients who are routinely taking a medication, including many people properly prescribed the medication for a medical condition, have morally significant aspects of (...) their cognition and behavior modified in a way that is unintended and may sometimes be unwelcome. Crockett notes that in some cases the effects of long-term drug use may differ, sometimes markedly, from the effects of short-term use. However, if acute use of a drug affects a neural system involved in mediating moral cognition or behavior, this nevertheless provides some evidence that chronic use of the drug may affect that same system and thus have morally significant effects. It is also plausible, in some cases, that an acute moral effect would give rise to a chronic moral effect via cognitive mechanisms. ... (shrink)

The short paper introduces the concept of possible branches of double-stranded DNA (later sometimes called palindromes): Certain sequences of nucleotides may be followed, after a short unpaired stretch, by a complementary sequence in reversed order, such that each DNA strand can fold back on itself, and the DNA assumes a cruciform or tree-like structure. This is postulated to interact with regulatory proteins. -/- .

Our goal in this paper is to articulate a precise concept of at least a certain kind of disease-mongering, showing how pharmaceutical marketing can commercially exploit certain diseases when their best definition is given through the success of a treatment in a clinical trial. We distinguish two types of disease-mongering according to the way they exploit the definition of the trial population for marketing purposes. We argue that behind these two forms of disease-mongering there are two well-known problems in (...) the statistical methodology of clinical trials (the reference class problem and the distinction between statistical and clinical significance). Overcoming them is far from simple. (shrink)

Claims about whether or not infertility is a disease are sometimes invoked to defend or criticize the provision of state-funded treatment for infertility. In this paper, I suggest that this strategy is problematic. By exploring infertility through key approaches to disease in the philosophy of medicine, I show that there are deep theoretical disagreements regarding what subtypes of infertility qualify as diseases. Given that infertility's disease status remains unclear, one cannot uncontroversially justify or undermine its claim to medical treatment (...) by claiming that it is or is not a disease. Instead of focusing on disease status, a preferable strategy to approach the debate about state-funded treatment is to explicitly address the specific ethical considerations raised by infertility. I show how this alternative strategy can be supported by a recent theoretical framework in the philosophy of medicine, which avoids the problems associated with the concepts of health and disease. (shrink)

The Neurological Disease Ontology (ND) is being developed to provide a comprehensive framework for the representation of neurological diseases (Diehl et al., 2013). ND utilizes the model established by the Ontology for General Medical Science (OGMS) for the representation of entities in medicine and disease (Scheuermann et al., 2009). The goal of ND is to include information for each disease concerning its molecular, genetic, and environmental origins, the processes involved in its etiology and realization, as well as its clinical (...) presentation including signs and symptoms. (shrink)

I begin with a description of the benefits and limits of DNA barcoding as presented by its advocates not its critics. Next, I argue that due to the mutually dependent relationship between defining and delimiting species, all systems of classification are grounded in theory, even if only implicitly. I then proceed to evaluate DNA barcoding in that context. In particular, I focus on the barcoders’ use of a sharp boundary by which to delimit species, arguing that this boundary brings along (...) additional theoretical commitments inconsistent with the way taxonomists conceive of species, viz., as entities that have vague boundaries and that cannot be defined by any single attribute other than ancestry. Given these inconsistencies, I conclude that even if groupings based on DNA barcodes match those of an existing taxonomy, the two systems of classification are not necessarily tracking the same entities, i.e., species. (shrink)

Brain-related diseases are among the most difficult diseases due to their sensitivity, the difficulty of performing operations, and their high costs. In contrast, the operation is not necessary to succeed, as the results of the operation may be unsuccessful. One of the most common diseases that affect the brain is Alzheimer’s disease, which affects adults, a disease that leads to memory loss and forgetting information in varying degrees. According to the condition of each patient. For these reasons, (...) it is important to classify memory loss and to know the patient at what level and his assessment of Alzheimer's disease through CT scans of the brain. In this thesis, we review ways and techniques to use deep learning classification to classifying the Alzheimer's Disease The proposed method used to improve patient care, reduce costs, and allow fast and reliable analysis in large studies. The model will be designed using Python language for implementing the system, which is very useful for doctors, classifying the Alzheimer's Disease, was used. The model used 70% from image for training and 30% from image for validation, our trained model achieved an accuracy of 100% on a held-out test set. (shrink)

Cardiovascular diseases, including heart disease, pose a significant global health challenge, contributing to a substantial burden on healthcare systems and individuals. Early detection and accurate prediction of heart disease are crucial for timely intervention and improved patient outcomes. This research explores the potential of neural networks in predicting heart disease using a dataset collected from Kaggle, consisting of 1025 samples with 14 distinct features. The study's primary objective is to develop an effective neural network model for binary classification, identifying (...) the presence or absence of heart disease. The neural network architecture includes an input layer, a hidden layer, and an output layer, designed to capture intricate relationships within the dataset. Rigorous training and validation processes, accompanied by data preprocessing steps, ensure the model's robustness and generalization capabilities. The results demonstrate promising performance, with an accuracy of 92% and an average error of 0.062. Moreover, an analysis of feature importance highlights key predictors, including "oldpeak," "thalach," "trestbps," "ca," "thal," "cp," "chol," "sex," "restecg," "age," "slope," "fbs," and "exang." This research contributes to the field of predictive healthcare by leveraging neural networks to enhance heart disease prediction. The developed model offers the potential for early identification of individuals at risk, facilitating timely medical interventions and ultimately improving public health. Further exploration of machine learning techniques in healthcare promises to reshape disease prediction and prevention strategies. (shrink)

Some ‘naturalist’ accounts of disease employ a biostatistical account of dysfunction, whilst others use a ‘selected effect’ account. Several recent authors have argued that the biostatistical account offers the best hope for a naturalist account of disease. We show that the selected effect account survives the criticisms levelled by these authors relatively unscathed, and has significant advantages over the BST. Moreover, unlike the BST, it has a strong theoretical rationale and can provide substantive reasons to decide difficult cases. This is (...) illustrated by showing how life-history theory clarifies the status of so-called diseases of old age. The selected effect account of function deserves a more prominent place in the philosophy of medicine than it currently occupies. _1_ Introduction _2_ Biostatistical and Selected Effect Accounts of Function _3_ Objections to the Selected Effect Account _3.1_ Boorse _3.2_ Kingma _3.3_ Hausman _3.4_ Murphy and Woolfolk _4_ Problems for the Biostatistical Account _4.1_ Schwartz _5_ Analysis versus Explication _6_ Explicating Dysfunction: Life History Theory and Senescence _7_ Conclusion. (shrink)

Abstract: Heart diseases are increasing daily at a rapid rate and it is alarming and vital to predict heart diseases early. The diagnosis of heart diseases is a challenging task i.e. it must be done accurately and proficiently. The aim of this study is to determine which patient is more likely to have heart disease based on a number of medical features. We organized a heart disease prediction model to identify whether the person is likely to be (...) diagnosed with a heart disease or not using the medical features of the person. We used many different algorithms of machine learning such as Gaussian Mixture, Nearest Centroid, MultinomialNB, Logistic RegressionCV, Linear SVC, Linear Discriminant Analysis, SGD Classifier, Extra Tree Classifier, Calibrated ClassifierCV, Quadratic Discriminant Analysis, GaussianNB, Random Forest Classifier, ComplementNB, MLP Classifier, BernoulliNB, Bagging Classifier, LGBM Classifier, Ada Boost Classifier, K Neighbors Classifier, Logistic Regression, Gradient Boosting Classifier, Decision Tree Classifier, and Deep Learning to predict and classify the patient with heart disease. A quite helpful approach was used to regulate how the model can be used to improve the accuracy of prediction of heart diseases in any person. The strength of the proposed model was very satisfying and was able to predict evidence of having a heart disease in a particular person by using Deep Learning and Random Forest Classifier which showed a good accuracy in comparison to the other used classifiers. The proposed heart disease prediction model will enhances medical care and reduces the cost. This study gives us significant knowledge that can help us predict the person with heart disease. The dataset was collected from Kaggle depository and the model is implemented using python. (shrink)

Similarly to other accounts of disease, Christopher Boorse’s Biostatistical Theory (BST) is generally presented and considered as conceptual analysis, that is, as making claims about the meaning of currently used concepts. But conceptual analysis has been convincingly critiqued as relying on problematic assumptions about the existence, meaning, and use of concepts. Because of these problems, accounts of disease and health should be evaluated not as claims about current meaning, I argue, but instead as proposals about how to define and use (...) these terms in the future, a methodology suggested by Quine and Carnap. I begin this article by describing problems with conceptual analysis and advantages of “philosophical explication,” my favored approach. I then describe two attacks on the BST that also question the entire project of defining “disease.” Finally, I defend the BST as a philosophical explication by showing how it could define useful terms for medical science and ethics. (shrink)

Artificial Intelligence (AI) technologies are now widely used in a variety of fields to aid with knowledge acquisition and decision-making. Health information systems, in particular, can gain the most from AI advantages. Recently, symptoms-based illness prediction research and manufacturing have grown in popularity in the healthcare business. Several scholars and organisations have expressed an interest in applying contemporary computational tools to analyse and create novel approaches for rapidly and accurately predicting illnesses. In this study, we present a paradigm for assessing (...) the efficacy of combining Machine Learning (ML) and Natural Language Processing (NLP) technologies in a disease prediction system. We scraped a disease-symptom dataset with NLP characteristics from one of the UK's most trusted National Health Service (NHS) websites as an example. In addition, we will thoroughly examine our data using symptom frequency, similarity, and clustering analysis. As a consequence, we can observe that the forecast has a high efficiency rate, but there are still some challenges to work out. (shrink)

There are many eye diseases but the most two common retinal diseases are Age-Related Macular Degeneration (AMD), which the sharp, central vision and a leading cause of vision loss among people age 50 and older, there are two types of AMD are wet AMD and DRUSEN. Diabetic Macular Edema (DME), which is a complication of diabetes caused by fluid accumulation in the macula that can affect the fovea. If it is left untreated it may cause vision loss. Therefore, (...) early detection of diseases is a critical importance. Our main goal is to help doctors detect these diseases quickly before reaching a late stage of the disease. In ophthalmology, optical coherence tomography (OCT) is critical for evaluating retinal conditions. OCT is an imaging technique used to capture high-resolution cross-sections of the retinas of patient. In this thesis, we review ways and techniques to use deep learning classification of the optical coherence tomography images of diseases from which a Retinal is suffering. The models used to improve patient care are (VGG-16, MobileNet, ResNet-50, Inception V3, and Xception) to reduce costs and allow fast and reliable analysis in large studies. The obtained results are encouraging, since the best model ResNet-50 reaching 96.21% of testing accuracy, which is very useful for doctors, to diagnose retinal diseases. (shrink)

On 11 March 2020, the World Health Organization declared a pandemic of the COVID-19 coronavirus disease that was first recognized in China in late 2019. Among the primary effects caused by the pandemic, there was the dissemination of health preventive measures such as physical distancing, travel restrictions, self-isolation, quarantines, and facility closures. This includes the global disruption of socio-economic systems including the postponement or cancellation of various public events (e.g., sporting, cultural, or religious), supply shortages and fears of the same, (...) schools and universities closure, evacuation of foreign citizens, a rise of unemployment, changes in the international aid schemes, misinformation, and incidents of discrimination toward people affected by or suspected of having the COVID-19 disease. The pandemic has brought to the fore unpreparedness in critical areas that require attention, amid prospects and challenges. Moreover, considerable reorganization efforts are required with implications for assets, resources, norms, and value systems. COVID-19 is challenging the concept of globalization and stimulating responses at the levels of local and regional socio-economic systems that lead to the mobilization of assets that have been unrecognized earlier on, such as various forms of economic capital, social capital, cultural capital, human capital, and creative capital. For example, through digital channels, local groups are forming to create schemes of support for physical and mental wellbeing. These emerging exchanges lead to various social and technological innovations by building on skills and assets that are less important in the free-market economy, such as empathy, skills for crafts, making and fixing; locally grown microgreens; and micromanufacturing. Isolation and local living are also making it much harder to ignore the civic responsibilities towards communities, meant as individuals, vulnerable groups, and local businesses. Whilst the pandemic is limiting physical participation, this challenging time is uncovering alternative ways of mutual support, which may create long-term benefits for socio-economic systems, including environmental and biodiversity protection, reduction of the air pollution, and climate action. The pandemic’s threat to public health will hopefully be overcome with implications for disruption for an extended period that we are unable to forecast at this stage. It is key to focus on studies recognizing the activities and interventions leading to the recovery of socio-economic systems after the pandemic. Reflecting and planning on how societies and economies will go back to “business as usual” requires new forms of communication and cooperation, imaginative design thinking, new styles of management, as well as new tools and forms of participation in various public policies. Many questions related to the care of the vulnerable, economic restart, and the risk of future pandemics, to mention but a few, are already occupying the academic, scientific, experts, and activist communities, who have started to imagine the “new normal.”. (shrink)

Last year saw the 20th anniversary edition of JECP, and in the introduction to the philosophy section of that landmark edition, we posed the question: apart from ethics, what is the role of philosophy ‘at the bedside’? The purpose of this question was not to downplay the significance of ethics to clinical practice. Rather, we raised it as part of a broader argument to the effect that ethical questions – about what we should do in any given situation – are (...) embedded within whole understandings of the situation, inseparable from our beliefs about what is the case, what it is that we feel we can claim to know, as well as the meaning we ascribe to different aspects of the situation or to our perception of it. Philosophy concerns fundamental questions: it is a discipline requiring us to examine the underlying assumptions we bring with us to our thinking about practical problems. Traditional academic philosophers divide their discipline into distinct areas that typically include logic: questions about meaning, truth and validity; ontology: questions about the nature of reality, what exists; epistemology: concerning knowledge; and ethics: how we should live and practice, the nature of value. Any credible attempt to analyse clinical reasoning will require us to think carefully about these types of question and the relationships between them, as they influence our thinking about specific situations and problems. So, the answers to the question we posed, about the role of philosophy at the bedside, are numerous and diverse, and that diversity is illustrated in the contributions to this thematic edition. (shrink)

Background: The castor bean is a large grassy or semi-wooden shrub or small tree. Any part of the castor plant parts can suffering from a disease that weakens the ability to grow and eliminates its production. Therefore, in this paper will identify the pests and diseases present in castor culture and detect the symptoms in each disease. Also images is showing the symptom form in this disease. Objectives: The main objective of this expert system is to obtain appropriate diagnosis (...) of the disease. Methods: In this paper, the expert system is designed for the ability of agricultural engineers to detect and diagnose disease of castor like as: seeding blight, alternaria blight, cercospora leaf spot, powdery mildew and wilt. This system presents the disease symptoms, survival and spread, favorable conditions and image for each disease. Clips and Delphi expert system languages are used for designing and implementing the proposed expert system. Results: The expert system in the diagnosis of castor diseases was assessed by farmers and agricultural engineers and they were satisfied and accepted with its quality of performance. Conclusions: The expert system is easy for farmers and people have experience in the plant of castor to detect and diagnosis the symptoms that may face this plant from several disease. (shrink)

In The Biopsychosocial Model of Health and Disease, Derek Bolton and Grant Gillett argue that a defensible updated version of the biopsychosocial model requires a metaphysically adequate account of disease causation that can accommodate biological, psychological, and social factors. This present paper offers a philosophical critique of their account of biopsychosocial causation. I argue that their account relies on claims about the normativity and the semantic content of biological information that are metaphysically contentious. Moreover, I suggest that these claims are (...) unnecessary for a defence of biopsychosocial causation, as the roles of multiple and diverse factors in disease causation can be readily accommodated by a more widely accepted and less metaphysically contentious account of causation. I then raise the more general concern that they are misdiagnosing the problem with the traditional version of the biopsychosocial model. The challenge when developing an explanatorily valuable version of the biopsychosocial model, I argue, is not so much providing an adequate account of biopsychosocial causation, but providing an adequate account of causal selection. Finally, I consider how this problem may be solved to arrive at a more explanatorily valuable and clinically useful version of the biopsychosocial model. (shrink)

Parkinson's Disease (PD) is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms generally come on slowly over time. Early in the disease, the most obvious are shaking, rigidity, slowness of movement, and difficulty with walking. Doctors do not know what causes it and finds difficulty in early diagnosing the presence of Parkinson’s disease. An artificial neural network system with back propagation algorithm is presented in this paper for helping doctors in identifying (...) PD. Previous research with regards to predict the presence of the PD has shown accuracy rates up to 93% [1]; however, accuracy of prediction for small classes is reduced. The proposed design of the neural network system causes a significant increase of robustness. It is also has shown that networks recognition rates reached 100%. (shrink)

The early Stoics diagnose vicious agents with various psychological diseases, e.g. love of money and love of wine. Such diseases are characterized as false evaluative opinions that lead the agent to form emotional impulses for certain objects, e.g. money and wine. Scholars have therefore analyzed psychological diseases simply as dispositions for assent. This interpretation is incomplete, I argue, and should be augmented with the claim that psychological disease also affects what kind of action-guiding impressions are created prior (...) to giving assent. This proposal respects the Stoic insistence that impression-formation, no less than assent, is an activity of reason. In so far as the wine-lover’s reason is corrupted in a different way from the money-lover’s, the two vicious agents will form different action-guiding impressions when faced with similar stimuli. Here I juxtapose the Stoic account of expertise, according to which experts form more precise action-guiding impressions compared to the amateur, in virtue of possessing a system of grasps (katalēpseis). So expertise enhances, whereas psychological disease degrades, the representational fidelity of the impressions that prefigure action. With these commitments, the Stoics can be seen to offer a nuanced and principled theory of cognitive penetration and to anticipate some recent proposals in epistemology and cognitive science. (shrink)

In this paper, we identify some key features of what makes something a disease, and consider whether these apply to pregnancy. We argue that there are some compelling grounds for regarding pregnancy as a disease. Like a disease, pregnancy affects the health of the pregnant person, causing a range of symptoms from discomfort to death. Like a disease, pregnancy can be treated medically. Like a disease, pregnancy is caused by a pathogen, an external organism invading the host’s body. Like a (...) disease, the risk of getting pregnant can be reduced by using prophylactic measures. We address the question of whether the ‘normality’ of pregnancy, its current necessity for human survival, or the value often attached to it are reasons to reject the view that pregnancy is a disease. We point out that applying theories of disease to the case of pregnancy, can in many cases illuminate inconsistencies and problems within these theories. Finally, we show that it is difficult to find one theory of disease that captures all paradigm cases of diseases, while convincingly excluding pregnancy. We conclude that there are both normative and pragmatic reasons to consider pregnancy a disease. (shrink)

There is no doubt that custard apple diseases are among the important reasons that destroy the Custard Apple plant and its agricultural crops. This leads to obvious damage to these plants and they become inedible. Discovering these diseases is a good step to provide the appropriate and correct treatment. Determining the treatment with high accuracy depends on the method used to correctly diagnose the disease, expert systems can greatly help in avoiding damage to these plants. The expert system (...) correctly diagnoses Custard Apple disease to make it easier for farmers to find the right treatment based on the appropriate diagnosis. Objectives: A specialized syllable language system was established for the diagnosis of Custard Apple plant disease. (shrink)

The Infectious Disease Ontology (IDO) is a suite of interoperable ontology modules that aims to provide coverage of all aspects of the infectious disease domain, including biomedical research, clinical care, and public health. IDO Core is designed to be a disease and pathogen neutral ontology, covering just those types of entities and relations that are relevant to infectious diseases generally. IDO Core is then extended by a collection of ontology modules focusing on specific diseases and pathogens. In this (...) paper we present applications of IDO Core within various areas of infectious disease research, together with an overview of all IDO extension ontologies and the methodology on the basis of which they are built. We also survey recent developments involving IDO, including the creation of IDO Virus; the Coronaviruses Infectious Disease Ontology (CIDO); and an extension of CIDO focused on COVID-19 (IDO-CovID-19).We also discuss how these ontologies might assist in information-driven efforts to deal with the ongoing COVID-19 pandemic, to accelerate data discovery in the early stages of future pandemics, and to promote reproducibility of infectious disease research. (shrink)

This paper has two objectives 1) to study the influence of digital and new technology on COVID-19 diagnosis and healthcare 2) To propose the integral guideline solutions of the infectious disease for the future. COVID-19 stands for corona (CO), virus (VI), disease (D), or SARS-CoV-2, is a respiratory virus first identified in December 2019 in Wuhan, China(WHO, 2019). It is an epidemiological crisis that caused the deaths and sudden destruction of wealth and health of people around the world. Many countries (...) responded to the crisis with what could only be called urgent prevention and treatment. In the 21st century, our society is based on digital and new technology that can control and prevent the COVID-19 pandemics. However, these ways for solving the problem of COVID-19 pandemics are rising an epistemological crisis too. There are some problems with the COVID-19 diagnosis. From Buddhist philosophy perspective, COVID-19 teaches us the coronavirus is causing us to experience some heightened forms of the three marks of our existence which are the impermanence (aniccā), the suffering (duḥkha), and the non-self (anatta). The establishment of scientific expertise and innovation has shown its value and educating the public about testing, diagnosis, communication, treatment, and vaccine development technology for prevention the of infectious diseases in the future. (shrink)