| 1. |
- Tobias, Deirdre K, et al.
(författare)
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Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
- 2023
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Ingår i: Nature Medicine. - 1546-170X. ; 29:10, s. 2438-2457
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Forskningsöversikt (refereegranskat)abstract
- Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes affects hundreds of millions of people worldwide, many of whom will develop life-threatening complications and die prematurely. Precision medicine can potentially address this enormous problem by accounting for heterogeneity in the etiology, clinical presentation and pathogenesis of common forms of diabetes and risks of complications. This second international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine; furthermore, we expose important gaps in knowledge, focusing on the need to obtain new clinically relevant evidence. Gaps include the need for common standards for clinical readiness, including consideration of cost-effectiveness, health equity, predictive accuracy, liability and accessibility. Key milestones are outlined for the broad clinical implementation of precision diabetes medicine.
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| 2. |
- Hambrecht, George, et al.
(författare)
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Archaeological sites as Distributed Long-term Observing Networks of the Past (DONOP)
- 2020
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Ingår i: Quaternary International. - : Elsevier BV. - 1040-6182 .- 1873-4553. ; 549, s. 218-226
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Tidskriftsartikel (refereegranskat)abstract
- Archaeological records provide a unique source of direct data on long-term human-environment interactions and samples of ecosystems affected by differing degrees of human impact. Distributed long-term datasets from archaeological sites provide a significant contribution to establish local, regional, and continental-scale environmental baselines and can be used to understand the implications of human decision-making and its impacts on the environment and the resources it provides for human use. Deeper temporal environmental baselines are essential for resource and environmental managers to restore biodiversity and build resilience in depleted ecosystems. Human actions are likely to have impacts that reorganize ecosystem structures by reducing diversity through processes such as niche construction. This makes data from archaeological sites key assets for the management of contemporary and future climate change scenarios because they combine information about human behavior, environmental baselines, and biological systems. Sites of this kind collectively form Distributed Long-term Observing Networks of the Past (DONOP), allowing human behavior and environmental impacts to be assessed over space and time. Behavioral perspectives are gained from direct evidence of human actions in response to environmental opportunities and change. Baseline perspectives are gained from data on species, landforms, and ecology over timescales that long predate our typically recent datasets that only record systems already disturbed by people. Biological perspectives can also provide essential data for modern managers wanting to understand and utilize past diversity (i.e., trophic and/or genetic) as a way of revealing, and potentially correcting, weaknesses in our contemporary wild and domestic animal populations.
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| 3. |
- Hartman, Steven, 1965-, et al.
(författare)
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Medieval Iceland, Greenland, and the New Human Condition : A case study in integrated environmental humanities
- 2017
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Ingår i: Global and Planetary Change. - : Elsevier BV. - 0921-8181 .- 1872-6364. ; 156:September 2017, s. 123-139
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Tidskriftsartikel (refereegranskat)abstract
- This paper contributes to recent studies exploring the longue durée of human impacts on island landscapes, the impacts of climate and other environmental changes on human communities, and the interaction of human societies and their environments at different spatial and temporal scales. In particular, the paper addresses Iceland during the medieval period (with a secondary, comparative focus on Norse Greenland) and discusses episodes where environmental and climatic changes have appeared to cross key thresholds for agricultural productivity. The paper draws upon international, interdisciplinary research in the North Atlantic region led by the North Atlantic Biocultural Organization (NABO) and the Nordic Network for Interdisciplinary Environmental Studies (NIES) in the Circumpolar Networks program of the Integrated History and Future of People on Earth (IHOPE). By interlinking analyses of historically grounded literature with archaeological studies and environmental science, valuable new perspectives can emerge on how these past societies may have understood and coped with such impacts. As climate and other environmental changes do not operate in isolation, vulnerabilities created by socioeconomic factors also beg consideration. The paper illustrates the benefits of an integrated environmental-studies approach that draws on data, methodologies and analytical tools of environmental humanities, social sciences, and geosciences to better understand long-term human ecodynamics and changing human-landscape-environment interactions through time. One key goal is to apply previously unused data and concerted expertise to illuminate human responses to past changes; a secondary aim is to consider how lessons derived from these cases may be applicable to environmental threats and socioecological risks in the future, especially as understood in light of the New Human Condition, the concept transposed from Hannah Arendt's influential framing of the human condition that is foregrounded in the present special issue. This conception admits human agency's role in altering the conditions for life on earth, in large measure negatively, while acknowledging the potential of this self-same agency, if effectively harnessed and properly directed, to sustain essential planetary conditions through a salutary transformation of human perception, understanding and remedial action. The paper concludes that more long-term historical analyses of cultures and environments need to be undertaken at various scales. Past cases do not offer perfect analogues for the future, but they can contribute to a better understanding of how resilience and vulnerability occur, as well as how they may be compromised or mitigated.
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| 4. |
- Mellows, Andrew, et al.
(författare)
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The impact of past climate change on genetic variation and population connectivity in the Icelandic arctic fox
- 2012
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Ingår i: Proceedings of the Royal Society of London. Biological Sciences. - : The Royal Society. - 0962-8452 .- 1471-2954. ; 279:1747, s. 4568-4573
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Tidskriftsartikel (refereegranskat)abstract
- Previous studies have suggested that the presence of sea ice is an important factor in facilitating migration and determining the degree of genetic isolation among contemporary arctic fox populations. Because the extent of sea ice is dependent upon global temperatures, periods of significant cooling would have had a major impact on fox population connectivity and genetic variation. We tested this hypothesis by extracting and sequencing mitochondrial control region sequences from 17 arctic foxes excavated from two late-ninth-century to twelfth-century AD archaeological sites in northeast Iceland, both of which predate the Little Ice Age (approx. sixteenth to nineteenth century). Despite the fact that five haplotypes have been observed in modern Icelandic foxes, a single haplotype was shared among all of the ancient individuals. Results from simulations within an approximate Bayesian computation framework suggest that the rapid increase in Icelandic arctic fox haplotype diversity can only be explained by sea-ice-mediated fox immigration facilitated by the Little Ice Age.
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| 5. |
- Opitz, Rachel, et al.
(författare)
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A Lockpick's Guide to dataARC: Designing Infrastructures and Building Communities to Enable Transdisciplinary Research
- 2021
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Ingår i: Internet Archaeology. - : Council for British Archaeology. - 1363-5387. ; 56
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Tidskriftsartikel (refereegranskat)abstract
- The North Atlantic Biocultural Organization (NABO) community initiated dataARC to develop digital research infrastructures to support their work on long-term human-ecodynamics in the North Atlantic. These infrastructures were designed to address the challenges of sharing research data, the connections between those data and high-level interpretations, and the interpretations themselves. In parallel, they were also designed to support the reuse of diverse data that underpin transdisciplinary synthesis research and to contextualise materials disseminated widely to the public more firmly in their evidence base. This article outlines the research infrastructure produced by the project and reflects on its design and development. We outline the core motivations for dataARC's work and introduce the tools, platforms and (meta)data products developed. We then undertake a critical review of the project's workflow. This review focuses on our understanding of the needs of stakeholder groups, the principles that guided the design of the infrastructure, and the extent to which these principles are successfully promoted in the current implementation. Drawing on this assessment, we consider how the infrastructure, in whole or in part, might be reused by other transdisciplinary research communities. Finally, we highlight key socio-technical gaps that may emerge as structural barriers to transdisciplinary, engaged, and open research if left unaddressed.
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| 6. |
- Rivas, Manuel A., et al.
(författare)
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Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1066-U50
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Tidskriftsartikel (refereegranskat)abstract
- More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 x 10(-16), odds ratio approximate to 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.
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| 7. |
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