46 research outputs found

    Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

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    The Global Parkinson's Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

    Motivations and experiences of museum visitors: The case of the Imperial War Museum, United Kingdom

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    This study explores motivations of visitors to the Imperial War Museum (North and South), United Kingdom, with a view to understanding why people visit museums associated with conflicts. Though museums are part of the education and leisure industry, the distinction between education and leisure is often blurred. There are a number of reasons why people visit museums. Motives of museum visitors can be grouped into intrinsic and extrinsic factors. This study analysed the extent to which museum visitors are motivated by extrinsic and intrinsic factors. Semi-structured interviews with visitors were conducted w at the Imperial Museum of War (North and South), United Kingdom. The findings do establish that extrinsic motivations are more dominant than the intrinsic ones for visiting the Imperial War Museum. The importance of extrinsic factors in motivating museum visitors would suggest that providing an opportunity for a good day out has more appeal to the visitors than the collections in the museum for the average visitors. The experiencing of museum in its totality is more important than the individual collections or the theme of the museum to the mainstream visitor. This work has made a contribution to understanding visitor motivations, which are multi-facetted, complex and not necessarily fully understood by the visitors themselves

    Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

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    \ua9 2023, Springer Nature Limited. The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

    Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

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    \ua9 2023, This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply. Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

    Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

    Get PDF
    The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

    Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

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    Correction to: s41531-023-00526-9 npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below

    Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease

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    Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

    Comment motiver les visiteurs à la lecture des étiquettes

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    This paper examines some functions of interpretive labels/graphies and relates these to the informal, voluntary conditions in which labels must fonction. It examines the often poor results seen when label design does not match the needs and expectations of voluntary, unguided audiences in informai settings. Some common reasons that contribute to the inability of otherwise compétent muséum professionals to create effective labels are discussed. Methods for improving the quality of attention to labels and some stepsfor label préparation are summarized.Cet article étudie certaines fonctions des textes ou des graphiques interprétatifs et replace ces fonctions dans le cadre informel et non contraignant dans lequel ces textes doivent fonctionner. Il analyse les résultats qui s'avèrent souvent faibles lorsque la réalisation de l'étiquette ne répond pas aux besoins et aux attentes de publics non captifs en visite individuelle. On discutera également des causes générales qui contribuent à placer des professionnels du musée compétents par ailleurs, dans l'incapacité de créer des étiquettes efficaces. Certaines méthodes destinées à améliorer la qualité de l'attention accordée aux étiquettes, et quelques étapes dans la préparation de celles-ci sont aussi résumées.Este articulo estudia ciertas funciones de los textos o de los gràficos interpretativos y vuelve a colocar estas funciones en el marco informal, no rigido en el anal estos textos deben funcionar. Analiza los resultados que a menado llegan a ser limitados cuando la realizaciôn del rôtulo, nos responde a las necesidades ni a las preocupaciones de pûblicos nos cantivos en visita individual. Se discutiràn también los motivos generales que contribuzen a colocar unos profesionales competentes del museo en la incapacida de crear rótulos eficaces. Algunos metodos destinados a majorar la calidad de atenciôn prestada a los rôtulos, y algunas etapas de la preparacion de estos se examinaràn tambien.Screven Chandler G. Comment motiver les visiteurs à la lecture des étiquettes. In: Publics et Musées, n°1, 1992. Textes et public dans les musées (sous la direction de Hana Gottesdiener) pp. 33-55
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