“Different Names for the Same Thing”? : Novelty, Expectations, and Performative Nominalism in Personalized and Precision Medicine

Peer reviewe

Genetic research and the collective good: participants as leaders to reconcile individual and public interests

New YorkThis paper problematises the notions of public or common good as weighed against individual sovereignty in the context of medical research by focusing on genetic research. We propose the notion of collective good as the good of the particular collective in which the research was conducted. We conducted documentary and interview-based research with participant representatives and research leaders concerned with participant involvement in leading genetic research projects and around two recent genetic data controversies: the case of the UK Wellcome Sanger Institute, accused of planning unauthorised commercialisation of African DNA samples, and the case of the company Genuity Science, which planned genetic research on brain tumour samples in Ireland with no explicit patient consent. We advocate for greater specificity in circumscribing the collective to which genetic research relates and for greater efforts in including representatives of this collective as research coleaders in order to enable a more inclusive framing of the good arising from such research. Such community-based participant cogovernance and coleadership in genetic research is vital especially when minorities or vulnerable groups are involved, and it centrally requires community capacity building to help collectives articulate their own notions of the collective good.European Commission Horizon 202

Vulnerability and Response-Ability in the Pandemic Marketplace: Developing an Ethic of Care for Provisioning in Crisis

This paper draws on the ethics of care to investigate how citizens grappled with ethical tensions in the mundane practice of grocery shopping at the height of the Covid-19 pandemic. We use this case to address the broader question of what it means ‘to care’ in the context of a crisis. Based on a qualitative longitudinal cross-country interview study, we find that the pandemic transformed ordinary shopping spaces into places fraught with a sense of fear and vulnerability. Being forced to face one’s own vulnerability created an opportunity for individuals to relate to one another as significant others through a sense of “response-ability”, or the capacity of people to respond to ethical demands through situated ethical reasoning. We argue for a practical ethos of care in which seemingly small decisions such as how often to go shopping and how much to buy of a particular product serve as a means to relate to both specified and generalized others—and through this, ‘care with’ society. Our study contributes to displacing the continuing prevalence of an abstract and prescriptive morality in consumption ethics with a situated and affective politics of care. This vocabulary seems better suited to reflect on the myriad of small and unheroic care acts in times of crisis and beyond

Vulnerability and Response-Ability in the Pandemic Marketplace: Developing an Ethic of Care for Provisioning in Crisis

This paper draws on the ethics of care to investigate how citizens grappled with ethical tensions in the mundane practice of grocery shopping at the height of the Covid-19 pandemic. We use this case to address the broader question of what it means ‘to care’ in the context of a crisis. Based on a qualitative longitudinal cross-country interview study, we find that the pandemic transformed ordinary shopping spaces into places fraught with a sense of fear and vulnerability. Being forced to face one’s own vulnerability created an opportunity for individuals to relate to one another as significant others through a sense of “response-ability”, or the capacity of people to respond to ethical demands through situated ethical reasoning. We argue for a practical ethos of care in which seemingly small decisions such as how often to go shopping and how much to buy of a particular product serve as a means to relate to both specified and generalized others—and through this, ‘care with’ society. Our study contributes to displacing the continuing prevalence of an abstract and prescriptive morality in consumption ethics with a situated and affective politics of care. This vocabulary seems better suited to reflect on the myriad of small and unheroic care acts in times of crisis and beyond

Vulnerability and Response-Ability in the Pandemic Marketplace: Developing an Ethic of Care for Provisioning in Crisis

This paper draws on the ethics of care to investigate how citizens grappled with ethical tensions in the mundane practice of grocery shopping at the height of the Covid-19 pandemic. We use this case to address the broader question of what it means ‘to care’ in the context of a crisis. Based on a qualitative longitudinal cross-country interview study, we find that the pandemic transformed ordinary shopping spaces into places fraught with a sense of fear and vulnerability. Being forced to face one’s own vulnerability created an opportunity for individuals to relate to one another as significant others through a sense of “response-ability”, or the capacity of people to respond to ethical demands through situated ethical reasoning. We argue for a practical ethos of care in which seemingly small decisions such as how often to go shopping and how much to buy of a particular product serve as a means to relate to both specified and generalized others – and through this, ‘care with’ society. Our study contributes to displacing the continuing prevalence of an abstract and prescriptive morality in consumption ethics with a situated and affective politics of care. This vocabulary seems better suited to reflect on the myriad of small and unheroic care acts in times of crisis and beyond.European Commission Horizon 2020European Research CouncilBundesministerium für Bildung und ForschungUniversity of Oxford COVID-19 Research Response FundTo check citing and date details in 6

Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome

Background: Sotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions of the NSD1 gene located on chromosome 5q35. SoS population might present cognitive impairment and a spectrum of behavioral characteristics, with a worse profile in patients with microdeletion. Although patients with SoS are known to have impaired sleep habits, very little data are available. The present study aimed to assess the prevalence of sleep disorders (SDs) in a pediatric cohort of patients with SoS and their correlation with neuropsychiatric profiles. Methods: We included patients with a SoS diagnosis and age &lt; 18 years; all patients underwent a comprehensive neuropsychological assessment, including evaluation of cognition, adaptive functions through the Adaptive Behavior Assessment System-Second Edition (ABAS-II), and behavioral problems using the Achenbach Child Behavior Checklist (CBCL) and Conners’ Parent Rating Scale-Revised (CPRS-R:L) questionnaire. To investigate the presence of SD parents, the Sleep Disturbance Scale for Children (SDSC) was completed. Results: Thirty-eight patients (M 61%, F 39%, mean age 11.1 ± 4.65 years) were included in the study. Although only two had a prior SD diagnosis, 71.1% (N = 27) exhibited pathological scores on SDSC. No statistically significant associations were found between positive SDSC results and genetic microdeletion, intellectual disability (ID), or other medical conditions/treatments. However, a positive correlation emerged between SDSC scores and Conners’ Global Index (p = 0.048) and Restless/Impulsive (p = 0.01) scores, CBCL externalizing (p = 0.02), internalizing (p = 0.01), and total scores (p = 0.05). Conversely, a negative linear relationship was observed between the SDSC score and the ABAS GAC and ABAS CAD scores (p = 0.025). Conclusion: We detected an SD in 71.1% of our sample, with a positive relation between SD and internalizing and externalizing symptom levels, especially hyperactivity and impulsivity. Our study demonstrated a high prevalence of SD in pediatric patients with SoS, highlighting that all patients should be screened for this problem, which has a great impact on the quality of life of patients and their families.</p

A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients

Fabry disease is an X-linked lysosomal storage disease caused by mutations in the a-galactosidase A gene (GLA), leading to the absence or a reduction of the enzymatic activity of the encoded enzyme and subsequent progressive tissue accumulation of glycosphingolipids through-out all the body, with consequent multiorgan failure. Here, we report the case of a 57-year-old woman with Fabry disease due to a novel GLA gene mutation

Toward global citizenship? People (de)bordering their lives during COVID-19 in Latin America and Europe

The COVID-19 pandemic highlighted global interdependencies, accompanied by widespread calls for worldwide cooperation against a virus that knows no borders, but responses were led largely separately by national governments. In this tension between aspiration and reality, people began to grapple with how their own lives were affected by the global nature of the pandemic. In this article, based on 493 qualitative interviews conducted between 2020 and 2021, we explore how people in Argentina, Austria, Bolivia, Ecuador, Ireland, Italy and Mexico experienced, coped with and navigated the global nature of the pandemic. In dialogue with debates about the parameters of the ‘global’ in global health, we focus on what we call people's everyday (de)bordering practices to examine how they negotiated (dis)connections between ‘us’ and ‘them’ during the pandemic. Our interviewees’ reactions moved from national containment to an increasing focus on people's unequal socio-spatial situatedness. Eventually, they began to (de)border their lives beyond national lines of division and to describe a new normal: a growing awareness of global connectedness and a desire for global citizenship. This newfound sense of global interrelatedness could signal support for and encourage transnational political action in times of crises

Democratic research: Setting up a research commons for a qualitative, comparative, longitudinal interview study during the COVID-19 pandemic

The sudden and dramatic advent of the COVID-19 pandemic led to urgent demands for timely, relevant, yet rigorous research. This paper discusses the origin, design, and execution of the SolPan research commons, a large-scale, international, comparative, qualitative research project that sought to respond to the need for knowledge among researchers and policymakers in times of crisis. The form of organization as a research commons is characterized by an underlying solidaristic attitude of its members and its intrinsic organizational features in which research data and knowledge in the study is shared and jointly owned. As such, the project is peer-governed, rooted in (idealist) social values of academia, and aims at providing tools and benefits for its members. In this paper, we discuss challenges and solutions for qualitative studies that seek to operate as research commons.European Commission Horizon 2020Wellcome Trust -- Submitted for publication after 1 Jan 2021: 0m embargo and CC-BY licenseBundesministerium für Bildung und ForschungCOVID-19 Research Response Fund University of OxfordWellcome CenterKULeuven BOF FundUniversity of ViennaCariplo Foundation Social ScienceUniversity of Basel Research Fun

The rs1001179 SNP and CpG methylation regulate catalase expression in chronic lymphocytic leukemia

Chronic lymphocytic leukemia (CLL) is an incurable disease characterized by an extremely variable clinical course. We have recently shown that high catalase (CAT) expression identifies patients with an aggressive clinical course. Elucidating mechanisms regulating CAT expression in CLL is preeminent to understand disease mechanisms and develop strategies for improving its clinical management. In this study, we investigated the role of the CAT promoter rs1001179 single nucleotide polymorphism (SNP) and of the CpG Island II methylation encompassing this SNP in the regulation of CAT expression in CLL. Leukemic cells harboring the rs1001179 SNP T allele exhibited a significantly higher CAT expression compared with cells bearing the CC genotype. CAT promoter harboring the T -but not C- allele was accessible to ETS-1 and GR-β transcription factors. Moreover, CLL cells exhibited lower methylation levels than normal B cells, in line with the higher CAT mRNA and protein expressed by CLL in comparison with normal B cells. Methylation levels at specific CpG sites negatively correlated with CAT levels in CLL cells. Inhibition of methyltransferase activity induced a significant increase in CAT levels, thus functionally validating the role of CpG methylation in regulating CAT expression in CLL. Finally, the CT/TT genotypes were associated with lower methylation and higher CAT levels, suggesting that the rs1001179 T allele and CpG methylation may interact in regulating CAT expression in CLL. This study identifies genetic and epigenetic mechanisms underlying differential expression of CAT, which could be of crucial relevance for the development of therapies targeting redox regulatory pathways in CLL