The International Hundred Thousand Plus Cohort Consortium: integrating large-scale cohorts to address global scientific challenges.
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ABSTRACT:
SUBMITTER: Manolio TA
PROVIDER: S-EPMC7572082 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Publications
The International Hundred Thousand Plus Cohort Consortium: integrating large-scale cohorts to address global scientific challenges.
Manolio Teri A TA Goodhand Peter P Ginsburg Geoffrey G
The Lancet. Digital health 20201019 11
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Project description:BackgroundAs a collaboration model between the International HundredK+ Cohorts Consortium (IHCC) and the Davos Alzheimer's Collaborative (DAC), our aim was to develop a trans-ethnic genomic informed risk assessment (GIRA) algorithm for Alzheimer's disease (AD).MethodsThe GIRA model was created to include polygenic risk score calculated from the AD genome-wide association study loci, the apolipoprotein E haplotypes, and non-genetic covariates including age, sex, and the first three principal components of population substructure.ResultsWe validated the performance of the GIRA model in different populations. The proteomic study in the participant sites identified proteins related to female infertility and autoimmune thyroiditis and associated with the risk scores of AD.ConclusionsAs the initial effort by the IHCC to leverage existing large-scale datasets in a collaborative setting with DAC, we developed a trans-ethnic GIRA for AD with the potential of identifying individuals at high risk of developing AD for future clinical applications.
| S-EPMC10854406 | biostudies-literature
Project description:Hyperspectral imaging (HSI) finds broad applications in various fields due to its substantial optical signatures for the intrinsic identification of physical and chemical characteristics. However, it faces the inherent challenge of balancing spatial, temporal, and spectral resolution due to limited bandwidth. Here we present SpectraTrack, a computational HSI scheme that simultaneously achieves high spatial, temporal, and spectral resolution in the visible-to-near-infrared (VIS-NIR) spectral range. We deeply investigated the spatio-temporal-spectral multiplexing principle inherent in HSI videos. Based on this theoretical foundation, the SpectraTrack system uses two cameras including a line-scan imaging spectrometer for temporal-multiplexed hyperspectral data and an auxiliary RGB camera to capture motion flow. The motion flow guides hyperspectral reconstruction by reintegrating the scanned spectra into a 4D video. The SpectraTrack system can achieve around megapixel HSI at 100 fps with 1200 spectral channels, demonstrating its great application potential from drone-based anti-vibration video-rate HSI to high-throughput non-cooperative anti-spoofing.
| S-EPMC11530457 | biostudies-literature
Project description:Collaboration among scientists has a major influence on scientific progress. Such collaboration often results from scientific meetings, where scientists gather to present and discuss their research and to meet potential collaborators. However, most scientific meetings have inherent biases, such as the availability of research funding or the selection bias of professional societies that make it difficult to study the effect of the meeting per se on scientific productivity. To evaluate the effects of scientific meetings on collaboration and progress independent of these biases, we conducted a study of the annual symposia held by the International Milk Genomics Consortium (IMGC) over a 12-year period. In our study, we conducted permutation testing to analyze the effectiveness of the IMGC in facilitating collaboration and productivity in a community of milk scientists who were meeting attendees relative to non-attendees. Using the number of co-authorships on published papers as a measure of collaboration, our analysis revealed that scientists who attended the symposium were associated with more collaboration than were scientists who did not attend. Furthermore, we evaluated the scientific progress of consortium attendees by analyzing publication rate and article impact. We found that IMGC attendees, in addition to being more collaborative, were also more productive and influential than were non-attendees who published in the same field. The results of our study suggest that the annual symposium encouraged interactions among disparate scientists and increased research productivity, exemplifying the positive effect of scientific meetings on both collaboration and progress.
| S-EPMC6104928 | biostudies-literature
Project description:Schizophrenia (SZ) is associated with an increased risk of life-long cognitive impairments, age-related chronic disease, and premature mortality. We investigated evidence for advanced brain ageing in adult SZ patients, and whether this was associated with clinical characteristics in a prospective meta-analytic study conducted by the ENIGMA Schizophrenia Working Group. The study included data from 26 cohorts worldwide, with a total of 2803 SZ patients (mean age 34.2 years; range 18-72 years; 67% male) and 2598 healthy controls (mean age 33.8 years, range 18-73 years, 55% male). Brain-predicted age was individually estimated using a model trained on independent data based on 68 measures of cortical thickness and surface area, 7 subcortical volumes, lateral ventricular volumes and total intracranial volume, all derived from T1-weighted brain magnetic resonance imaging (MRI) scans. Deviations from a healthy brain ageing trajectory were assessed by the difference between brain-predicted age and chronological age (brain-predicted age difference [brain-PAD]). On average, SZ patients showed a higher brain-PAD of +3.55 years (95% CI: 2.91, 4.19; I2 = 57.53%) compared to controls, after adjusting for age, sex and site (Cohen's d = 0.48). Among SZ patients, brain-PAD was not associated with specific clinical characteristics (age of onset, duration of illness, symptom severity, or antipsychotic use and dose). This large-scale collaborative study suggests advanced structural brain ageing in SZ. Longitudinal studies of SZ and a range of mental and somatic health outcomes will help to further evaluate the clinical implications of increased brain-PAD and its ability to be influenced by interventions.
| S-EPMC10005935 | biostudies-literature
Project description:In the last decade, it has become evident that RNA is frequently found in DNA. It is now well established that single embedded ribonucleoside monophosphates (rNMPs) are primarily introduced by DNA polymerases and that longer stretches of RNA can anneal to DNA, generating RNA:DNA hybrids. Among them, the most studied are R-loops, peculiar three-stranded nucleic acid structures formed upon the re-hybridization of a transcript to its template DNA. In addition, polyribonucleotide chains are synthesized to allow DNA replication priming, double-strand breaks repair, and may as well result from the direct incorporation of consecutive rNMPs by DNA polymerases. The bright side of RNA into DNA is that it contributes to regulating different physiological functions. The dark side, however, is that persistent RNA compromises genome integrity and genome stability. For these reasons, the characterization of all these structures has been under growing investigation. In this review, we discussed the origin of single and multiple ribonucleotides in the genome and in the DNA of organelles, focusing on situations where the aberrant processing of RNA:DNA hybrids may result in multiple rNMPs embedded in DNA. We concluded by providing an overview of the currently available strategies to study the presence of single and multiple ribonucleotides in DNA in vivo.
| S-EPMC7084774 | biostudies-literature
Project description:Acute leukemia is the most common cancer in children under 15 years of age; 80% are acute lymphoblastic leukemia (ALL) and 17% are acute myeloid leukemia (AML). Childhood leukemia shows further diversity based on cytogenetic and molecular characteristics, which may relate to distinct etiologies. Case-control studies conducted worldwide, particularly of ALL, have collected a wealth of data on potential risk factors and in some studies, biospecimens. There is growing evidence for the role of infectious/immunologic factors, fetal growth, and several environmental factors in the etiology of childhood ALL. The risk of childhood leukemia, like other complex diseases, is likely to be influenced both by independent and interactive effects of genes and environmental exposures. While some studies have analyzed the role of genetic variants, few have been sufficiently powered to investigate gene-environment interactions.The Childhood Leukemia International Consortium (CLIC) was established in 2007 to promote investigations of rarer exposures, gene-environment interactions and subtype-specific associations through the pooling of data from independent studies.By September 2012, CLIC included 22 studies (recruitment period: 1962-present) from 12 countries, totaling approximately 31000 cases and 50000 controls. Of these, 19 case-control studies have collected detailed epidemiologic data, and DNA samples have been collected from children and child-parent trios in 15 and 13 of these studies, respectively. Two registry-based studies and one study comprising hospital records routinely obtained at birth and/or diagnosis have limited interview data or biospecimens.CLIC provides a unique opportunity to fill gaps in knowledge about the role of environmental and genetic risk factors, critical windows of exposure, the effects of gene-environment interactions and associations among specific leukemia subtypes in different ethnic groups.
| S-EPMC3652629 | biostudies-other
Project description:PurposeSome pesticides may increase the risk of certain lymphoid malignancies, but few studies have examined Hodgkin lymphoma (HL). In this exploratory study, we examined associations between agricultural use of 22 individual active ingredients and 13 chemical groups and HL incidence.MethodsWe used data from three agricultural cohorts participating in the AGRICOH consortium: the French Agriculture and Cancer Cohort (2005-2009), Cancer in the Norwegian Agricultural Population (1993-2011), and the US Agricultural Health Study (1993-2011). Lifetime pesticide use was estimated from crop-exposure matrices or self-report. Cohort-specific covariate-adjusted overall and age-specific (< 40 or ≥ 40 years) hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using Cox regression and combined using random effects meta-analysis.ResultsAmong 316 270 farmers (75% male) accumulating 3 574 815 person-years at risk, 91 incident cases of HL occurred. We did not observe statistically significant associations for any of the active ingredients or chemical groups studied. The highest risks of HL overall were observed for the pyrethroids deltamethrin (meta-HR = 1.86, 95% CI 0.76-4.52) and esfenvalerate (1.86, 0.78-4.43), and inverse associations of similar magnitude were observed for parathion and glyphosate. Risk of HL at ≥ 40 years of age was highest for ever-use of dicamba (2.04, 0.93-4.50) and lowest for glyphosate (0.46, 0.20-1.07).ConclusionWe report the largest prospective investigation of these associations. Nonetheless, low statistical power, a mixture of histological subtypes and a lack of information on tumour EBV status complicate the interpretability of the results. Most HL cases occurred at older ages, thus we could not explore associations with adolescent or young adult HL. Furthermore, estimates may be attenuated due to non-differential exposure misclassification. Future work should aim to extend follow-up and refine both exposure and outcome classification.
| S-EPMC10533587 | biostudies-literature
Project description: Not available
| S-EPMC10205751 | biostudies-literature
Project description:BackgroundWhile responsible innovation in health (RIH) suggests that health innovations could be purposefully designed to better support health systems, little is known about the system-level challenges that it should address. The goal of this paper is thus to document what is known about health systems' demand for innovations.MethodsWe searched 8 databases to perform a scoping review of the scientific literature on health system challenges published between January 2000 and April 2016. The challenges reported in the articles were classified using the dynamic health system framework. The countries where the studies had been conducted were grouped using the human development index (HDI). Frequency distributions and qualitative content analysis were performed.ResultsUp to 1391 challenges were extracted from 254 articles examining health systems in 99 countries. Across countries, the most frequently reported challenges pertained to: service delivery (25%), human resources (23%), and leadership and governance (21%). Our analyses indicate that innovations tend to increase challenges associated to human resources by affecting the nature and scope of their tasks, skills and responsibilities, to exacerbate service delivery issues when they are meant to be used by highly skilled providers and call for accountable governance of their dissemination, use and reimbursement. In countries with a low and medium HDI, problems arising with infrastructure, logistics and equipment were described in connection with challenges affecting procurement, supply and distribution systems. In countries with a medium and high HDI, challenges included a growing demand for drugs and new technology and the management of rising costs. Across all HDI groups, the need for flexible information technologies (IT) solutions to reach rural areas was underscored.ConclusionHighlighting challenges that are common across countries, this study suggests that RIH should aim to reduce the cost of innovation production processes and attend not only to the requirements of the immediate clinical context of use, but also to the vulnerabilities of the broader system wherein innovations are deployed. Policy-makers should translate system-level demand signals into innovation development opportunities since it is imperative to foster innovations that contribute to the success and sustainability of health systems.
| S-EPMC6462209 | biostudies-literature
Project description:Meningiomas are the most common primary intracranial tumors in adults and are increasing in incidence due to the aging population and increased access to neuroimaging. While most exhibit nonmalignant behavior, a subset of meningiomas are biologically aggressive and are associated with treatment resistance, resulting in significant neurologic morbidity and even mortality. In recent years, meaningful advances in our understanding of the biology of these tumors have led to the incorporation of molecular biomarkers into their grading and prognostication. However, unlike other central nervous system (CNS) tumors, a unified molecular taxonomy for meningiomas has not yet been established and remains an overarching goal of the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy-Not Official World Health Organization (cIMPACT-NOW) working group. Additionally, clinical equipoise still remains on how specific meningioma cases and patient populations should be optimally managed. To address these existing gaps, members of the International Consortium on Meningiomas including field-leading experts, have prepared this comprehensive consensus narrative review directed toward clinicians, researchers, and patients. Included in this manuscript are detailed overviews of proposed molecular classifications, novel biomarkers, contemporary treatment strategies, trials on systemic therapies, health-related quality-of-life studies, and management strategies for unique meningioma patient populations. In each section, we discuss the current state of knowledge as well as ongoing clinical and research challenges to road map future directions for further investigation.
| S-EPMC11449035 | biostudies-literature