HealthTwiSt: The Berlin Twin Registry for Health Research

2012 ◽  
Vol 16 (1) ◽  
pp. 163-166 ◽  
Author(s):  
Andreas Busjahn

The Berlin Twin Registry has its focus on health research. It is operated as a private company, making twin studies available to academic institutions as well as commercial partners in the area of biotechnology and nutrition. Recruitment is based on invitation in the context of mass media coverage of scientific results. Phenotyping in the unselected twin subjects is directed toward intermediate phenotypes that can bear on common diseases. These phenotypes include proteomic approaches and gene expression. Some results are briefly described to give an impression of the range of research topics and related opportunities for retrospective and prospective collaborative research.

2006 ◽  
Vol 9 (6) ◽  
pp. 778-782 ◽  
Author(s):  
Andreas Busjahn

AbstractThe Berlin Twin Registry began as a short-term local project and developed into a resource that now serves partners throughout Germany and Europe. A twin registry as a private company is a different approach with pros and cons. Compared to academic institutions, there are greater flexibilities in collaborations, as well as acquisition and use of research funds. Recruitment is based on invitation in the context of the mass media coverage of scientific results. Phenotyping in normal twin subjects is concentrated on intermediate phenotypes that can bear on common diseases. These phenotypes include proteomic approaches and gene expression. Some results are briefly described to give an impression of the range of research topics and related opportunities for retrospective and prospective collaborative research.


2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Peter van der Graaf ◽  
Lindsay Blank ◽  
Eleanor Holding ◽  
Elizabeth Goyder

Abstract Background The national Public Health Practice Evaluation Scheme (PHPES) is a response-mode funded evaluation programme operated by the National Institute for Health Research School for Public Health Research (NIHR SPHR). The scheme enables public health professionals to work in partnership with SPHR researchers to conduct rigorous evaluations of their interventions. Our evaluation reviewed the learning from the first five years of PHPES (2013–2017) and how this was used to implement a revised scheme within the School. Methods We conducted a rapid review of applications and reports from 81 PHPES projects and sampled eight projects (including unfunded) to interview one researcher and one practitioner involved in each sampled project (n = 16) in order to identify factors that influence success of applications and effective delivery and dissemination of evaluations. Findings from the review and interviews were tested in an online survey with practitioners (applicants), researchers (principal investigators [PIs]) and PHPES panel members (n = 19) to explore the relative importance of these factors. Findings from the survey were synthesised and discussed for implications at a national workshop with wider stakeholders, including public members (n = 20). Results Strengths: PHPES provides much needed resources for evaluation which often are not available locally, and produces useful evidence to understand where a programme is not delivering, which can be used to formatively develop interventions. Weaknesses: Objectives of PHPES were too narrowly focused on (cost-)effectiveness of interventions, while practitioners also valued implementation studies and process evaluations. Opportunities: PHPES provided opportunities for novel/promising but less developed ideas. More funded time to develop a protocol and ensure feasibility of the intervention prior to application could increase intervention delivery success rates. Threats: There can be tensions between researchers and practitioners, for example, on the need to show the 'success’ of the intervention, on the use of existing research evidence, and the importance of generalisability of findings and of generating peer-reviewed publications. Conclusions The success of collaborative research projects between public health practitioners (PHP) and researchers can be improved by funders being mindful of tensions related to (1) the scope of collaborations, (2) local versus national impact, and (3) increasing inequalities in access to funding. Our study and comparisons with related funding schemes demonstrate how these tensions can be successfully resolved.


2006 ◽  
Vol 9 (6) ◽  
pp. 712-717 ◽  
Author(s):  
Jessica D. Y. Lee ◽  
Lyle J. Palmer

AbstractThe Western Australian Twin Register (WATR) was established in 1997 to study the health of all child multiples born in Western Australia (WA). The Register has until recently consisted of all multiples born in WA between 1980 and 1997. Using unique record linkage capacities available through the WA data linkage system, we have subsequently been able to identify all multiple births born in WA since 1974. New affiliations with the Australian Twin Registry and the WA Institute for Medical Research are further enabled by the use of the WA Genetic Epidemiology Resource — a high-end bioinformatics infrastructure that allows efficient management of health datasets and facilitates collaborative research capabilities. In addition to this infrastructure, funding provided by these institutions has allowed the extension of the WATR to include a greater number of WA multiples, including those born between 1974 and 1979, and from 1998 onwards. These resources are in the process of being enabled for national and international access.


2018 ◽  
Vol 67 (1) ◽  
pp. 57-65
Author(s):  
Alexandre Vaillant ◽  
Astrid Honvault ◽  
Stéphanie Bocs ◽  
Maryline Summo ◽  
Garel Makouanzi ◽  
...  

Abstract To assess the genetic and environmental components of gene-expression variation among trees we used RNA-seq technology and Eucalyptus urophylla x grandis hybrid clones tested in field conditions. Leaf and xylem transcriptomes of three 20 month old clones differing in terms of growth, repeated in two blocks, were investigated. Transcriptomes were very similar between ramets. The number of expressed genes was significantly (P<0.05) higher in leaf (25,665±634) than in xylem (23,637±1,241). A pairwise clone comparisons approach showed that 4.5 to 14 % of the genes were diffe­rentially expressed (false discovery rate [FDR]<0.05) in leaf and 7.1 to 16 % in xylem. An assessment of among clone variance components revealed significant results in leaf and xylem in 3431 (248) genes (at FDR<0.2) and 160 (3) (at FDR<0.05), respectively. These two complementary approa­ches displayed correlated results. A focus on the phenylpro­panoid, cellulose and xylan pathways revealed a large majo­rity of low expressed genes and a few highly expressed ones, with RPKM values ranging from nearly 0 to 600 in leaf and 10,000 in xylem. Out of the 115 genes of these pathways, 45 showed differential expression for at least one pair of geno­type, five of which displaying also clone variance compo­nents. These preliminary results are promising in evaluating whether gene expression can serve as possible ‘intermediate phenotypes’ that could improve the accuracy of selection of grossly observable traits.


2016 ◽  
Author(s):  
Robert Z. Selden ◽  
Thomas J. Williams ◽  
Nancy Velchoff ◽  
Michael B. Collins

On August 19, 2016, selected Clovis artifacts from the Gault site (41BL323) were scanned in advance of a large collaborative research project. These data were collected using a NextEngineHD running ScanStudioHD Pro, and were post-processed in Geomagic Design X 2016.0.1. All data associated with this project have been made publicly available (open access) and are accessible in Zenodo under a Creative Commons Attribution license, where they can be downloaded for use in additional projects and learning activities. These data have the capacity to augment a variety of research designs spanning the digital humanities, applications of geometric morphometrics, and many others. Additionally, these scans will augment a wide range of comparative research topics throughout the Americas and beyond. Reuse potential for these data is significant.


2020 ◽  
Author(s):  
Markus Lehmkuhl ◽  
Nikolai Promies

Based on the decision-theoretical conditions underlying the selection of events for news coverage in science journalism, this article uses a novel input-output analysis to investigate which of the more than eight million scientific study results published between August 2014 and July 2018 have been selected by global journalism to a relevant degree. We are interested in two different structures in the media coverage of scientific results. Firstly, the structure of sources that journalists use, i.e. scientific journals, and secondly, the congruence of the journalistic selection of single results. Previous research suggests that the selection of sources and results follows a certain heavy-tailed distribution, a power law. Mathematically, this distribution can be described with a function of the form C*x-α. We argue that the exponent of such power law distributions can potentially be an indicator to describe selectivity in journalism on a high aggregation level. In our input-output analysis, we look for such patterns in the coverage of all scientific results published in the database Scopus over four years. To get an estimate of the coverage of these results, we use data from the altmetrics provider Altmetric, more precisely their Mainstream-Media-Score (MSM-Score). Based on exploratory analyses, we define papers with a score of 50 or above as Social Impact Papers (SIPs). Over our study period, we identified 5,833 SIPs published in 1,236 journals. We consider a power law fit with an exponent of about -2 to be plausible for the distribution of the source selection but cannot confirm the power law hypothesis for the distribution of the selection of single results. In this case, an exponentially truncated power law seems to be the better fit.


2012 ◽  
Vol 16 (1) ◽  
pp. 34-42 ◽  
Author(s):  
John L. Hopper ◽  
Debra L. Foley ◽  
Paul A. White ◽  
Vincent Pollaers

The Australian Twin Registry (ATR) is a national volunteer resource of twin pairs and higher-order multiples willing to consider participating in health, medical, and scientific research. The vision of the ATR is ‘to realize the full potential of research involving twins to improve the health and well-being of all Australians’. The ATR has been funded continuously by the National Health and Medical Council for more than 30 years. Its core functions entail the recruitment and retention of twin members, the maintenance of an up-to-date database containing members’ contact details and baseline information, and the promotion and provision of open access to researchers from all institutes in Australia, and their collaborators, in a fair and equitable manner. The ATR is administered by The University of Melbourne, which acts as custodian. Since the late 1970s the ATR has enrolled more than 40,000 twin pairs of all zygosities and facilitated more than 500 studies that have produced at least 700 peer-reviewed publications from classical twin studies, co-twin control studies, within-pair comparisons, twin family studies, longitudinal twin studies, randomized controlled trials, and epigenetics studies, as well as studies of issues specific to twins. New initiatives include: a Health and Life Style Questionnaire; data collection, management, and archiving using a secure online software program (The Ark); and the International Network of Twin Registries. The ATR's expertise and 30 years of experience in providing services to national and international twin studies has made it an important resource for research across a broad range of disciplines.


2020 ◽  
Vol 31 (2) ◽  
pp. 338-348
Author(s):  
Chrysanthi Papoutsi ◽  
James Shaw ◽  
Sara Paparini ◽  
Sara Shaw

There is increasing focus on complexity-informed approaches across health disciplines. This attention takes several forms, but commonly involves framing research topics as “complex” to justify use of particular methods (e.g., qualitative). Little emphasis is placed on how divergent and convergent ways of knowing complexity become negotiated within academic communities. Drawing on findings from a focused ethnography of an international workshop, we illustrate how health researchers employ “boundary-ordering devices” to navigate different meanings ascribed to complexity while they attempt to sustain interdisciplinary communication and collaboration. These include (a) surfacing (but not resolving) tensions between philosophical grounding of knowledge claims and need for practical purchase, (b) employing techniques of representation and abstraction, and (c) drawing on the fluid, ongoing accomplishment of complexity for different audiences and purposes. Our findings have implications for progressing complexity-informed health research, particularly with respect to qualitative approaches.


BMJ Open ◽  
2018 ◽  
Vol 8 (2) ◽  
pp. e017889 ◽  
Author(s):  
Chao Tong ◽  
Li Wen ◽  
Yinyin Xia ◽  
Pamela Leong ◽  
Lan Wang ◽  
...  

IntroductionNon-communicable diseases (NCD) now represent the major burden of adverse health in most countries. It is clear that much of the risk of such conditions begins very early in life, potentially in utero. Given their complex aetiology, an understanding of the origins of NCD requires an in-depth analysis of the interplay between genetic variation and environment, preferably over time. For decades, twin studies have played a key role in understanding such traits. Their strength lies in the ability to disentangle genetic and environmental factors that contribute to a phenotype. This is done by comparing genetically identical monozygotic (MZ) with dizygotic twins, who share on average 50% of genetic variation, or by comparing MZ twins within a pair. This study aims to determine the relative contributions of genes and environment to early-onset intermediate phenotypes related to later adult onset disease (such as growth and neurodevelopment) and to identify specific biomarkers and time points for emergence of phenotypes from infancy, largely independent of underlying genetic factors.Methods/designThe Chongqing Longitudinal Twin Study (LoTiS) will recruit 300 women pregnant with twins, enriched for MZ pregnancies, with follow-up to 3 years of age. Data collection will be undertaken at key time points in gestation (×3), at delivery and postnatally (×9). Maternal and infant biospecimens including blood, urine, hair, nails and buccal swabs along with measures such as fetal scans and body measurements will be collected. Additional information from questionnaires and medical records includes pregnancy, diet, sociodemographics, maternal stress, and infant growth and neurodevelopment.Ethics and disseminationThis study has been approved by the Ethics Committee of Chongqing Medical University (record no: 201530) and has been registered with the Chinese Clinical Trial Registry (registry no: ChiCTR-OOC-16008203). Results of the recruitment and all subsequent analyses will be submitted for publication in peer-reviewed journals.Trial registration numberChiCTR-OOC-16008203; Results.


Sign in / Sign up

Export Citation Format

Share Document