Foreword

The aim of this study is to explore the relationship between gender, discourse and technology, and the resulting construction of bodily norms, in a contemporary environment dominated by info- and bio-technologies. The premise from which this study starts is that the ‘intra-action’ between gender, discourse and technology plays a central role in shaping contemporary identities. The study is based on close readings of material from three case studies: cyberpunk fiction, (in)fertility weblogs and the World Health Organisation guidelines on naming of biotechnologies. The distinctive combination of the three case studies provides a unique perspective on the relationship between gender, discourse and technology, showing how it shifts across different contexts, and demonstrating the socio-historical contingency of the bodily norms produced therein. This study is comprised of three empirical texts, one theoretical text and a kappa. The analysis shows how innovative cyberpunk narratives challenge not only human/non-human boundaries, but also genre and gender conventions. The specific format of the blog allows women’s experiences of infertility to be heard and produces hybrid discourses which challenge contemporary authoritative discourses about femininity. The third case study explores the assignment of International Nonproprietary Names to new biotechnologies, and the implications of this on the construction of patients’ bodies. Finally, the theoretical text contributes to existing feminist analyses of technoscience by proposing a new tool called abject/noise for examining disruptions to discursive and bodily coherence. This tool is then tested on a series of documents about the assignment of International Nonproprietary Names to new biotechnologies. Throughout, the importance of ‘situated knowledges’ is emphasised, both in how gender, discourse and technology are understood, but also in the norms produced and the position of the researcher.Syftet med denna studie är att undersöka relationen mellan genus, diskurs och teknik och hur denna relation bidrar till att konstruera vissa typer av kroppsnormer, speciellt som vår samtid infärgas av informationsteknik och bioteknik. Utgångspunkten för denna studie är att ’intra-action’ mellan genus, diskurs och teknik spelar en central roll i utformningen av samtida identiteter. Studien bygger på närläsningar av material från tre fallstudier: cyberpunk-litteratur, in/fertilitetets-bloggar och Världs-hälsoorganisationens riktlinjer för namngivning av bioteknik. Kombinationen av de tre fallstudierna ger ett unikt perspektiv på relationen mellan genus, diskurs och teknik. Den visar hur relationen skiftar mellan olika sammanhang, och hur denna är kulturellt villkorad och därmed tillåter vissa kroppsliga normer att upstå och cirkulera. Denna undersökning består av tre empiriskt grundade texter, en mer teoretisk text och en kappa. Den försten analysen visar hur innovativa cyberpunk berättelser inte bara utmanar föreställningar kring det mänsklig / icke-mänskliga gränser, utan också själva genren i sig och dess kulturella konventionerna kring genus. Det specifika format webbloggen (eller blogg) i den andra fallstudien tillåter kvinnors upplevelser av infertilitet att höras och producerar genreöverlappningar och igen-kännanden som utmanar samtida normativ diskurser om reproduktiv kvinnlighet. Den tredje fallstudien undersöker tilldelningen av ett så kallat Internationellt generiskt namn till nya biotekniska produkter, och konsekvenserna detta får för konstruktionen av patienternas genusifierade kroppar. Slutligen bidrar den teoretiska texten till befintliga feministiska analyser av ’teknovetenskap’ genom att föreslå ett nytt verktyg som kallas ’abject/noise’ för att undersöka störningar i diskursiva och kroppsliga sammanhang. Detta verktyg testats sedan också analytiskt på dokumentar som rör tilldelningen av Internationellt generiskt namn till ny bioteknik. Genom hela avhandlingen läggs tonvikten på ’situerad kunskap’, både gäller hur genus, diskurs och teknik förstås kontextuellt, hur normer blir till och hur forskaren positionerar sig

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits

The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

Brain multiplexes reveal morphological connectional biomarkers fingerprinting late brain dementia states

Accurate diagnosis of mild cognitive impairment (MCI) before conversion to Alzheimer’s disease (AD) is invaluable for patient treatment. Many works showed that MCI and AD affect functional and structural connections between brain regions as well as the shape of cortical regions. However, ‘shape connections’ between brain regions are rarely investigated -e.g., how morphological attributes such as cortical thickness and sulcal depth of a specific brain region change in relation to morphological attributes in other regions. To fill this gap, we unprecedentedly design morphological brain multiplexes for late MCI/AD classification. Specifically, we use structural T1-w MRI to define morphological brain networks, each quantifying similarity in morphology between different cortical regions for a specific cortical attribute. Then, we define a brain multiplex where each intra-layer represents the morphological connectivity network of a specific cortical attribute, and each inter-layer encodes the similarity between two consecutive intra-layers. A significant performance gain is achieved when using the multiplex architecture in comparison to other conventional network analysis architectures. We also leverage this architecture to discover morphological connectional biomarkers fingerprinting the difference between late MCI and AD stages, which included the right entorhinal cortex and right caudal middle frontal gyrus

Multimodal and Multiscale Deep Neural Networks for the Early Diagnosis of Alzheimer’s Disease using structural MR and FDG-PET images

Alzheimer’s Disease (AD) is a progressive neurodegenerative disease where biomarkers for disease based on pathophysiology may be able to provide objective measures for disease diagnosis and staging. Neuroimaging scans acquired from MRI and metabolism images obtained by FDG-PET provide in-vivo measurements of structure and function (glucose metabolism) in a living brain. It is hypothesized that combining multiple different image modalities providing complementary information could help improve early diagnosis of AD. In this paper, we propose a novel deep-learning-based framework to discriminate individuals with AD utilizing a multimodal and multiscale deep neural network. Our method delivers 82.4% accuracy in identifying the individuals with mild cognitive impairment (MCI) who will convert to AD at 3 years prior to conversion (86.4% combined accuracy for conversion within 1–3 years), a 94.23% sensitivity in classifying individuals with clinical diagnosis of probable AD, and a 86.3% specificity in classifying non-demented controls improving upon results in published literature

The impact of PICALM genetic variations on reserve capacity of posterior cingulate in AD continuum

Phosphatidylinositolbinding clathrin assembly protein (PICALM) gene is one novel genetic player associated with late-onset Alzheimer’s disease (LOAD), based on recent genome wide association studies (GWAS). However, how it affects AD occurrence is still unknown. Brain reserve hypothesis highlights the tolerant capacities of brain as a passive means to fight against neurodegenerations. Here, we took the baseline volume and/or thickness of LOAD-associated brain regions as proxies of brain reserve capacities and investigated whether PICALM genetic variations can influence the baseline reserve capacities and the longitudinal atrophy rate of these specific regions using data from Alzheimer’s Disease Neuroimaging Initiative (ADNI) dataset. In mixed population, we found that brain region significantly affected by PICALM genetic variations was majorly restricted to posterior cingulate. In sub-population analysis, we found that one PICALM variation (C allele of rs642949) was associated with larger baseline thickness of posterior cingulate in health. We found seven variations in health and two variations (rs543293 and rs592297) in individuals with mild cognitive impairment were associated with slower atrophy rate of posterior cingulate. Our study provided preliminary evidences supporting that PICALM variations render protections by facilitating reserve capacities of posterior cingulate in non-demented elderly

Early role of vascular dysregulation on late-onset Alzheimer's disease based on multifactorial data-driven analysis

Multifactorial mechanisms underlying late-onset Alzheimer's disease (LOAD) are poorly characterized from an integrative perspective. Here spatiotemporal alterations in brain amyloid-β deposition, metabolism, vascular, functional activity at rest, structural properties, cognitive integrity and peripheral proteins levels are characterized in relation to LOAD progression. We analyse over 7,700 brain images and tens of plasma and cerebrospinal fluid biomarkers from the Alzheimer's Disease Neuroimaging Initiative (ADNI). Through a multifactorial data-driven analysis, we obtain dynamic LOAD–abnormality indices for all biomarkers, and a tentative temporal ordering of disease progression. Imaging results suggest that intra-brain vascular dysregulation is an early pathological event during disease development. Cognitive decline is noticeable from initial LOAD stages, suggesting early memory deficit associated with the primary disease factors. High abnormality levels are also observed for specific proteins associated with the vascular system's integrity. Although still subjected to the sensitivity of the algorithms and biomarkers employed, our results might contribute to the development of preventive therapeutic interventions