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Keywords = Bruno Latour

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13 pages, 449 KB  
Article
Entangled Networks: Metaphor as Method, Matter, and Media
by Alis Oldfield
Arts 2025, 14(6), 152; https://doi.org/10.3390/arts14060152 - 26 Nov 2025
Viewed by 462
Abstract
This article examines how metaphors operate in digital media not as descriptive analogies but as structuring forces that shape how technologies are designed, understood, and inhabited. Building on Marianne van den Boomen’s theory of digital material metaphors, it argues that metaphors such as [...] Read more.
This article examines how metaphors operate in digital media not as descriptive analogies but as structuring forces that shape how technologies are designed, understood, and inhabited. Building on Marianne van den Boomen’s theory of digital material metaphors, it argues that metaphors such as the “desktop,” “cloud,” and “frontier” encode social and ideological assumptions into the infrastructures of computation. These metaphors render digital systems legible while concealing not just the procedural computation that van den Boomen terms depresentation, but the material, ecological, and labour conditions that sustain them. Using my practice-based work c(o)racle, 2025, as a case study, the internet is explored as a metaphorical and material terrain that connects networks of data, water, and craft, interrogating the dominant metaphor of cyberspace as immaterial and untethered, in dialogue with Tim Ingold, Lakoff and Johnson, Henri Lefebvre, and Yuk Hui. Drawing on S. J. Tambiah, Bruno Latour, and Elizabeth Wayland Barber, the essay situates metaphor within broader histories of making and mediation. By activating metaphor as both method and medium, the study proposes a critical reorientation toward digital space as an entangled, situated, and contested environment. Full article
(This article belongs to the Special Issue The Impact of the Visual Arts on Technology)
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13 pages, 236 KB  
Article
Beyond the Mystical Experience Model: Theurgy as a Framework for Ritual Learning with Psychedelics
by André van der Braak
Religions 2025, 16(11), 1430; https://doi.org/10.3390/rel16111430 - 8 Nov 2025
Viewed by 931
Abstract
Contemporary interpretations of psychedelic spirituality are dominated by the “mystical experience model,” which emphasizes that psychedelics can lead to well-being through bringing about ego dissolution and a unitive mystical experience. Rooted in perennialist and dualist assumptions—often derived from Christian mysticism, Vedanta, and Plotinian [...] Read more.
Contemporary interpretations of psychedelic spirituality are dominated by the “mystical experience model,” which emphasizes that psychedelics can lead to well-being through bringing about ego dissolution and a unitive mystical experience. Rooted in perennialist and dualist assumptions—often derived from Christian mysticism, Vedanta, and Plotinian Neoplatonism—this framework has shaped both scientific discourse and popular understanding of psychedelic states. However, the mystical experience model is controversial: (1) secular critics consider it as too religious; (2) it is a form of mystical exceptionalism, narrowly focusing on only certain extraordinary experiences; (3) its ontological assumptions include a Cartesian separation between internal experience and external reality and a perennialist focus on ultimate reality; (4) it neglects psychedelic learning processes; (5) in the ritual and ceremonial use of psychedelics, shared intentionality and practices of sacred participation are more important than the induction of individual mystical experiences. This article proposes an alternative and complementary model grounded in theurgy, based on the Neoplatonism of Iamblichus and the participatory ontological pluralism of Bruno Latour. Unlike the mystical experience model, which privileges individual unitary experiences, theurgy affirms ritual mediation, ritual competence, and both individual and collective transformation. Theurgic ritual practice makes room for the encounter with autonomous entities (framed by Latour as “beings of religion”) that are often reported by participants in psychedelic ceremonies. By examining how the theurgic framework can expand our understanding of psychedelic spirituality in a way that is truer to psychedelic phenomenology, especially the presence of autonomous entities, imaginal realms, and the centrality of intention and ritual, this article argues that theurgy offers a nuanced and experientially congruent framework that complements the mystical experience model. Framing psychedelic spirituality through theurgic lenses opens space for a vision of the sacred that is not about escaping the world into undifferentiated unity, but about individual and collective transformation in communion with a living, differentiated cosmos. Full article
(This article belongs to the Special Issue Psychedelics and Religion)
34 pages, 18470 KB  
Article
An Alternative Approach for Sustainable Management of Historic Urban Landscapes Through ANT via Algorithms: The Case of Bey’s Complex Palace in Constantine, Algeria
by Fatah Bakour and Ali Chougui
Sustainability 2025, 17(21), 9857; https://doi.org/10.3390/su17219857 - 5 Nov 2025
Viewed by 903
Abstract
Historic urban landscapes, despite their cultural significance, often face neglect, limiting their potential to increase the value of historical centers. Defined as a complex sociotechnical network that involves a variety of agencies incorporating material, immaterial, natural, and artificial elements, these landscapes present significant [...] Read more.
Historic urban landscapes, despite their cultural significance, often face neglect, limiting their potential to increase the value of historical centers. Defined as a complex sociotechnical network that involves a variety of agencies incorporating material, immaterial, natural, and artificial elements, these landscapes present significant challenges for architects because of their layered and diverse components. Actor–network theory (ANT) is used as a methodological and ontological framework to address this complexity. However, a notable research gap exists on the basis of the lack of clear representation and practical application of ANT to address the complexity of these historic urban landscapes. To bridge this gap, this study uses Bey’s palace as a case study to develop a comprehensive framework based on a digital mapping approach rooted in ANT. This framework traces, visualizes, and analyzes historic urban landscapes as intricate systems of agencies, leveraging graph theoretical algorithms and computational analysis tasks from network analysis tools to increase their effectiveness. This investigation is based on two key concepts: the actor/actant and the actor network. The research employed Bruno Latour’s concepts of translation, agency, and the mapping controversies technique grounded in graph-theoretic algorithm tasks to decipher the complexities of Bey’s palace system. The results identify seven clusters as actor networks and highlight the roles of key actors/actants, such as Ahmed Bey, decorative elements, courtyard gardens, and Moorish architecture. This methodological approach provides architects and urban planners with practical tools to better understand, analyze and preserve historic urban landscapes, enriching their cultural and historical value. By transforming contested discourses into measurable networks indicators, this interdisciplinary framework directly supports SDG11 (Sustainable Cities and Communities), especially Target 11.4, in safeguarding cultural heritage by enabling the prioritization, monitoring and governance of cultural, social and infrastructural assets in historic urban landscapes. Full article
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11 pages, 4570 KB  
Article
The Visual Sociography of Disaster Journalism: A Local Case Study
by Giacomo Buoncompagni
Journal. Media 2025, 6(1), 24; https://doi.org/10.3390/journalmedia6010024 - 11 Feb 2025
Cited by 1 | Viewed by 1758
Abstract
Recent national and international emergencies have repeatedly highlighted the role of information, and local information in particular, in synthesising various social and cultural policies proposed by public authorities and providing a correct representation of the living conditions of citizens on the ground, overcoming [...] Read more.
Recent national and international emergencies have repeatedly highlighted the role of information, and local information in particular, in synthesising various social and cultural policies proposed by public authorities and providing a correct representation of the living conditions of citizens on the ground, overcoming national media logics that are often based on the speed and spectacularisation of disasters. In fact, citizens have an “innate need” to know what is happening beyond their direct experience, to be aware of events that affect them or that are not happening in front of their eyes. A sociographic approach can be a supportive methodology to remember victims and report on disasters, but also to reconstruct new narratives by socially anticipating future environmental emergencies with the support of the media. Sociography as social narrative weaves together scientific analysis and journalistic storytelling, an old qualitative method that needs to be rediscovered, updated and integrated with new tools and methods. In this study, disaster narratives and analyses are supported by visual journalistic sources. In part, it takes up the gauntlet that Bruno Latour throws down to sociologists in Down to Earth, arguing that the latter should shift the focus of inquiry from theoretical analyses of social problems to descriptions of the existence of problems in experimental contexts, local shared spaces and common practices. This paper considers the description of (and within) the journalistic field as a methodological problem, examines the strengths and limitations of existing descriptive approaches and develops a different way of using a sociographic imagination in an attempt to make sense of changing journalistic practices with reference to specific Italian crisis events. Full article
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12 pages, 2268 KB  
Article
Moving toward Individual Treatment Goals with Pegcetacoplan in Patients with PNH and Impaired Bone Marrow Function
by Jeff Szer, Jens Panse, Austin Kulasekararaj, Monika Oliver, Bruno Fattizzo, Jun-ichi Nishimura, Regina Horneff, Johan Szamosi and Régis Peffault de Latour
Int. J. Mol. Sci. 2024, 25(16), 8591; https://doi.org/10.3390/ijms25168591 - 6 Aug 2024
Cited by 3 | Viewed by 2913
Abstract
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, potentially life-threatening haematological disease characterised by chronic complement-mediated haemolysis with multiple clinical consequences that impair quality of life. This post hoc analysis assessed haematological and clinical responses to the first targeted complement C3 inhibitor pegcetacoplan in [...] Read more.
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, potentially life-threatening haematological disease characterised by chronic complement-mediated haemolysis with multiple clinical consequences that impair quality of life. This post hoc analysis assessed haematological and clinical responses to the first targeted complement C3 inhibitor pegcetacoplan in patients with PNH and impaired bone marrow function in the PEGASUS (NCT03500549) and PRINCE (NCT04085601) studies. For patients with impaired bone marrow function, defined herein as haemoglobin <10 g/dL and absolute neutrophil count <1.5 × 109 cells/L, normalisation of the parameters may be difficult. Indeed, 20% and 43% had normalised haemoglobin in PEGASUS and PRINCE, respectively; 60% and 57% had normalised LDH, and 40% and 29% had normalised fatigue scores. A new set of parameters was applied using changes associated with clinically meaningful improvements, namely an increase in haemoglobin to ≥2 g/dL above baseline, decrease in LDH to ≤1.5× the upper limit of normal, and an increase in fatigue scores to ≥5 points above baseline. With these new parameters, 40% and 71% of PEGASUS and PRINCE patients had improved haemoglobin; 60% and 71% had an improvement in LDH, and 60% and 43% had an improvement in fatigue scores. Thus, even patients with impaired bone marrow function may achieve clinically meaningful improvements with pegcetacoplan. Full article
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25 pages, 18357 KB  
Article
Strategies for Sustainable Rooting in Landscape: Arrangements between Architecture and the Ground
by David Casino Rubio, Fernando Rodriguez Ramirez and Héctor Fernández-Elorza
Buildings 2024, 14(4), 1006; https://doi.org/10.3390/buildings14041006 - 4 Apr 2024
Viewed by 4327
Abstract
Contemporary environmental awareness requires new architectural practices to reformulate the relationship between buildings and the ground. Among these, the way in which buildings land on the site emerges as a key architectural condition that must be reviewed, focusing on generating new systems of [...] Read more.
Contemporary environmental awareness requires new architectural practices to reformulate the relationship between buildings and the ground. Among these, the way in which buildings land on the site emerges as a key architectural condition that must be reviewed, focusing on generating new systems of articulation, more sensitive and attentive to the specific conditions of the grounds. Drawing on the ecological perspectives put forth by authors like Bruno Latour in recent years, this article presents a critical analysis of the rooting systems developed by some of the most significant architectural practices today. This case study provides a catalogue of various sustainable topographical strategies that prioritize the conservation and nurturing of soil properties. The discussion of these strategies enables the synthesis of a series of design guidelines to foster new relationships of affinity with the land, positioning architecture not as an imposition on the territory but as a facilitator of its natural development. Full article
(This article belongs to the Section Architectural Design, Urban Science, and Real Estate)
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13 pages, 234 KB  
Article
The Web of Life: A Critique of Nature, Wilderness, Gaia and the «Common Household»
by Anne Marie Reijnen
Religions 2024, 15(1), 63; https://doi.org/10.3390/rel15010063 - 3 Jan 2024
Cited by 1 | Viewed by 3177
Abstract
A two-word summary of the following article might be «Words matter». It matters whether we conceive of the non-built world as nature, as «wilderness», as Gaia/Mother Earth, or as «our common home». We analyze the emergence of each of these four notions. Nature, [...] Read more.
A two-word summary of the following article might be «Words matter». It matters whether we conceive of the non-built world as nature, as «wilderness», as Gaia/Mother Earth, or as «our common home». We analyze the emergence of each of these four notions. Nature, by far the most multi-layered of the words, has a complex history rooted in the Greek word phusis. Nature is problematic because of its opposites: supernatural; nurture, culture and civilization. Nature seems to require dualism. Wilderness started out as something terrifying (the realm of the wild beasts), later acquiring a specific American understanding of an area conserved for recreation, of nature partially preserved, all desirable goals inspired by John Muir. In the Scriptures, wilderness becomes filled by promise. Gaia is short for the Gaia hypothesis of Earth as a living, self-regulating organism. It was coined by James Lovelock and Lynn Margulis and discussed critically by Bruno Latour. Compared with the view of the Earth as dead matter, «Gaia» is conducive to respect for all living beings. When it is coupled with Mother Earth, the concept becomes problematic from a feminist point of view. The common home or household stem from the teachings of Pope Francis. Although Laudato si’ is rightly viewed as a prophetic text regarding ecology and spirituality, «common home» implies a domestication of all that lives in a worldview that remains anthropocentric (homes are artefacts). A better concept is the «web of life» of which humankind is a part, but not the master. It is such a decentering that may herald hope for the Earth. Full article
(This article belongs to the Special Issue Eco-Theology: Interrelationships of Religion, Nature, and Common Life)
8 pages, 219 KB  
Article
Archaeology and Hauntology: An Ongoing, Stalled Conversation
by Colby Dickinson
Religions 2023, 14(10), 1286; https://doi.org/10.3390/rel14101286 - 12 Oct 2023
Cited by 2 | Viewed by 2026
Abstract
It is certainly possible that we might learn to better acknowledge the spirits of our ancestors who came before us, as well as to recognize them in such ways that we also learn to embrace the ‘woven density’ of our own lives, our [...] Read more.
It is certainly possible that we might learn to better acknowledge the spirits of our ancestors who came before us, as well as to recognize them in such ways that we also learn to embrace the ‘woven density’ of our own lives, our histories and our communities. By doing so, we might begin to discover that the spirits we had thought were removed from our modern, secularized world never fully left us, just as the irrationality of our humanity cannot be fully tamed via a reductive, rational and scientific outlook on life. There are, as Bruno Latour had frequently argued, many modes of human existence that interact in complex networks of relations. To fall back on any one particular mode as if it could dominate over others would only grant us a mistaken impression of our own humanity, even though this is what has been practiced for centuries in order to legitimate a particular, sovereign configuration of power. It is to the credit of archaeologists and hauntologists alike that we are more able than ever to take account of the complexity of ourselves in ways that we had previously ignored or repressed. Full article
18 pages, 327 KB  
Article
Gaia and Religious Pluralism in Bruno Latour’s ‘New-Materialism’
by Fernando Suárez Müller
Religions 2023, 14(8), 960; https://doi.org/10.3390/rel14080960 - 25 Jul 2023
Cited by 2 | Viewed by 4202
Abstract
In his works on ecological philosophy, Bruno Latour develops an interesting perspective on religion and pluralism. He proposes a new worldview, in which religion is reinterpreted in view of a Gaian philosophy. He extends ‘pluralism’ beyond the anthropocentrism that dominates modern humanism. In [...] Read more.
In his works on ecological philosophy, Bruno Latour develops an interesting perspective on religion and pluralism. He proposes a new worldview, in which religion is reinterpreted in view of a Gaian philosophy. He extends ‘pluralism’ beyond the anthropocentrism that dominates modern humanism. In his book Facing Gaia Latour includes nonhuman beings in a larger community and works towards a larger concept of eco-humanism. In this paper, I try to reconstruct his position by showing that the philosophical foundation for his interpretation of religion could be called ‘terrarism’ and is to be classified as a form of new materialism. This new interpretation of materialism has postmodernist origins (inspired by Gilles Deleuze), but it is not identical to it, because Latour distances himself from ‘postmodernism’. He wants to positively contribute to a new ontology. My point is that Latour’s ‘terrarist’ grounding of religious pluralism obstructs any foundation of transcendence and, finally, congests a really pluralistic ecumene because he still adheres to the postmodernist idea that we should renounce to a unitary principle of being. His ideas on eco-humanism and pluralistic ecumene could gain momentum if we opened ourselves to a more holistic and spiritual way of thinking, retaking Lovelock’s conception of Gaia. However, Latour’s new-materialistic interpretation of ‘animism’ can be seen as a positive contribution to a new perspective of the world that definitively sets ‘materialism’ aside. Full article
(This article belongs to the Special Issue Cultural and Religious Pluralism in the Age of Imaginaries)
14 pages, 253 KB  
Article
Slowing Down Climate Services: Climate Change as a Matter of Concern
by Werner Krauß
Sustainability 2023, 15(8), 6458; https://doi.org/10.3390/su15086458 - 11 Apr 2023
Cited by 3 | Viewed by 3781
Abstract
This article addresses the appropriate place for and design of climate services drawing upon a case study of three different forms of climate service delivery in a coastal landscape in Northern Germany. Each of these forms addresses different audiences and provides different types [...] Read more.
This article addresses the appropriate place for and design of climate services drawing upon a case study of three different forms of climate service delivery in a coastal landscape in Northern Germany. Each of these forms addresses different audiences and provides different types of knowledge about climate change and a different orientation toward policy support. The three-part case study includes a regional, a municipal and a social climate service. Drawing upon this comparative, case-based research, I develop the idea of ‘slowing down climate services’, based on the ‘slow science manifesto’ introduced by the science philosopher Isabelle Stengers, by postnormal science and by political ecology as suggested by Bruno Latour. How does climate change become a matter of concern? Slowing down climate services means following the social life of scientific facts, engaging with the public and exploring ways to improve democratic and place-based decision making. I argue that there is an urgent need to overcome the big science orientation of climate services and to add what Stengers calls ‘public intelligence’, the integration of a sense of place and of the social, cultural, political and other performative aspects of climate change in specific landscapes. Full article
24 pages, 10778 KB  
Article
“And People Shall Be Contaminated by My Doctrine”: Religion, Science, and Nationalism in Assi Meshullam’s Order of the Unclean
by Yonatan Amir
Arts 2023, 12(1), 8; https://doi.org/10.3390/arts12010008 - 4 Jan 2023
Viewed by 2664
Abstract
This article discusses Assi Meshullam’s inter-discipline ongoing art project Order of the Unclean, while addressing issues of Religion, Art, Nationalism and Science embodied in the work. Using Eve Kosofsky Sedgwick’s “reparative reading” and Bruno Latour’s discussion on the concept of modernism, the [...] Read more.
This article discusses Assi Meshullam’s inter-discipline ongoing art project Order of the Unclean, while addressing issues of Religion, Art, Nationalism and Science embodied in the work. Using Eve Kosofsky Sedgwick’s “reparative reading” and Bruno Latour’s discussion on the concept of modernism, the article argues that Meshullam returns to the polytheistic history of the area, and provokes the tension between religious faith and heresy, not in order to “take a side” in the debating between religiosity and secularism, but to put the so-called contrasted terms in question, mark their points of mutual inclusion, and offer a complex perspective on the relationship between the sacred, the secular and the national in modern Israeli society. The study lies in an academic examination of Meshullam’s monumental work for the first time, combining knowledge and methodologies in art history, comparative religion studies and critical theories. Full article
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13 pages, 2163 KB  
Article
Listening to Terrestrial Voices in Ted Chiang’s “The Great Silence”
by Anne McConnell
Literature 2022, 2(2), 77-89; https://doi.org/10.3390/literature2020007 - 2 May 2022
Cited by 1 | Viewed by 10913
Abstract
Ted Chiang’s short story, “The Great Silence”, takes the perspective of a parrot living in the Rio Abajo forest in Puerto Rico, sharing its habitat with the Arecibo Observatory. The story first appeared as the textual component of a video installation by Allora [...] Read more.
Ted Chiang’s short story, “The Great Silence”, takes the perspective of a parrot living in the Rio Abajo forest in Puerto Rico, sharing its habitat with the Arecibo Observatory. The story first appeared as the textual component of a video installation by Allora & Calzadilla, a piece that emphasizes the entanglement of the forest habitat and the massive structure of the telescope). Chiang’s parrot-narrator wonders why humans demonstrate such a commitment to the possibility of interstellar communication while often ignoring the voices and interests of our terrestrial cohabitants. The parrot’s critically endangered species, the Puerto Rican parrot, once filled the forests of the island, and the narrator presents his/her narrative as a sort of final plea to humans, asking us to consider the speech of the nonhumans with whom we live. Bruno Latour’s notion of “the terrestrial” provides a useful framework for approaching the parrot’s narrative, specifically in terms of the demand to come “down to earth”, engaging in the politics of human and nonhuman agents who all have something at stake. The parrot asks that we turn more attention to terrestrial concerns, in order to communicate with those who are already speaking to us. Full article
(This article belongs to the Special Issue Environmental Literature, Climate Crises, and Pandemics)
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12 pages, 224 KB  
Article
Dark Theology as an Approach to Reassembling the Church
by Andrey Shishkov
Religions 2022, 13(4), 324; https://doi.org/10.3390/rel13040324 - 6 Apr 2022
Cited by 3 | Viewed by 4912
Abstract
Dark theology as a theoretical approach emerged during debates on human rights and inclusion in Orthodox theology. It is realized at the junction of such disciplines as ecclesiology, political theology, philosophy, and social theory. It is based on the tools of object-oriented ontology [...] Read more.
Dark theology as a theoretical approach emerged during debates on human rights and inclusion in Orthodox theology. It is realized at the junction of such disciplines as ecclesiology, political theology, philosophy, and social theory. It is based on the tools of object-oriented ontology (OOO), one of the branches of the philosophy of speculative realism. The author proposes a theoretical framework by which we can talk about God and supernatural entities as real objects included in public discourses through the collective imagination. The article discovers the basic theoretical (ontological, epistemological, and aesthetic) principles of dark theology as they apply to ecclesiology and political theology. Additionally, it discusses the existence of church dark actors who do not come within the field of vision of the theological mind (ecclesiology) illuminating ecclesial space. The author concludes by proposing a concept of reassembling the Church based on Bruno Latour’s notion of the ‘collective’. Full article
(This article belongs to the Special Issue Public Discourse and Orthodox Christianity)
17 pages, 1502 KB  
Article
Care Ethics, Bruno Latour, and the Anthropocene
by Michael Flower and Maurice Hamington
Philosophies 2022, 7(2), 31; https://doi.org/10.3390/philosophies7020031 - 14 Mar 2022
Cited by 24 | Viewed by 11562
Abstract
Bruno Latour is one of the founding figures in social network theory and a broadly influential systems thinker. Although his work has always been relational, little scholarship has engaged the relational morality, ontology, and epistemology of feminist care ethics with Latour’s actor–network theory. [...] Read more.
Bruno Latour is one of the founding figures in social network theory and a broadly influential systems thinker. Although his work has always been relational, little scholarship has engaged the relational morality, ontology, and epistemology of feminist care ethics with Latour’s actor–network theory. This article is intended as a translation and a prompt to spur further interactions. Latour’s recent publications, in particular, have focused on the new climate regime of the Anthropocene. Care theorists are just beginning to address posthuman approaches to care. The argument here is that Latourian analysis is helpful for such explorations, given that caring for the earth and its inhabitants is the dire moral challenge of our time. The aim here is not to characterize Latour as a care theorist but rather as a provocative scholar who has much to say that is significant to care thinking. We begin with a brief introduction to Latour’s scholarship and lexicon, followed by a discussion of care theorist Puig de la Bellacasa’s work on Latour. We then explore recent work on care and the environment consistent with a Latourian approach. The conclusion reinforces the notion that valuing relationality across humans and non-human matter is essential to confronting the Anthropocene. Full article
(This article belongs to the Special Issue Feminist Care Ethics Confronts Mainstream Philosophy)
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7 pages, 780 KB  
Article
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
by Thibaut Benquey, Emmanuelle Pion, Mireille Cossée, Martin Krahn, Tanya Stojkovic, Aurélien Perrin, Mathieu Cerino, Annamaria Molon, Anne-Sophie Lia, Corinne Magdelaine, Bruno Francou, Anne Guiochon-Mantel, Marie-Claire Malinge, Eric Leguern, Nicolas Lévy, Shahram Attarian, Philippe Latour and Nathalie Bonello-Palot
Genes 2022, 13(2), 318; https://doi.org/10.3390/genes13020318 - 9 Feb 2022
Cited by 9 | Viewed by 3583
Abstract
Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot–Marie–Tooth disease (CMT) and related disorders called non-syndromic inherited peripheral neuropathies (NSIPN) in this paper. With over 100 different CMT-associated genes involved and ongoing discoveries, an important interlaboratory diversity of [...] Read more.
Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot–Marie–Tooth disease (CMT) and related disorders called non-syndromic inherited peripheral neuropathies (NSIPN) in this paper. With over 100 different CMT-associated genes involved and ongoing discoveries, an important interlaboratory diversity of gene panels exists at national and international levels. Here, we present the work of the French National Network for Rare Neuromuscular Diseases (FILNEMUS) genetic diagnosis section which coordinates the seven French diagnosis laboratories using NGS for peripheral neuropathies. This work aimed to establish a unique, simple and accurate gene classification based on literature evidence. In NSIPN, three subgroups were usually distinguished: (1) HMSN, Hereditary Motor Sensory Neuropathy, (2) dHMN, distal Hereditary Motor Neuropathy, and (3) HSAN, Hereditary Sensory Autonomic Neuropathy. First, we reported ClinGen evaluation, and second, for the genes not evaluated yet by ClinGen, we classified them as “definitive” if reported in at least two clinical publications and associated with one report of functional evidence, or “limited” otherwise. In total, we report a unique consensus gene list for NSIPN including the three subgroups with 93 genes definitive and 34 limited, which is a good rate for our gene’s panel for molecular diagnostic use. Full article
(This article belongs to the Special Issue Genetics of Muscular Disorders)
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