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Träfflista för sökning "WFRF:(Dawkins Hugh) "

Sökning: WFRF:(Dawkins Hugh)

  • Resultat 1-6 av 6
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1.
  • Bladen, Catherine L., et al. (författare)
  • The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia
  • 2013
  • Ingår i: Human Mutation. - 1059-7794 .- 1098-1004. ; 34:11, s. 1449-1457
  • Tidskriftsartikel (refereegranskat)abstract
    • Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence<5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.
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2.
  • Hansson, Mats G., et al. (författare)
  • The risk of re-identification versus the need to identify individuals in rare disease research
  • 2016
  • Ingår i: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 24:11, s. 1553-1558
  • Tidskriftsartikel (refereegranskat)abstract
    • There is a growing concern in the ethics literature and among policy makers that de-identification or coding of personal data and biospecimens is not sufficient for protecting research subjects from privacy invasions and possible breaches of confidentiality due to the possibility of unauthorized re-identification. At the same time, there is a need in medical science to be able to identify individual patients. In particular for rare disease research there is a special and well-documented need for research collaboration so that data and biosamples from multiple independent studies can be shared across borders. In this article, we identify the needs and arguments related to de-identification and re-identification of patients and research subjects and suggest how the different needs may be balanced within a framework of using unique encrypted identifiers.
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3.
  • Mascalzoni, Deborah, et al. (författare)
  • International Charter of principles for sharing bio-specimens and data
  • 2015
  • Ingår i: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 23, s. 721-728
  • Tidskriftsartikel (refereegranskat)abstract
    • There is a growing international agreement on the need to provide greater access to research data and bio-specimen collections to optimize their long-term value and exploit their potential for health discovery and validation. This is especially evident for rare disease research. Currently, the rising value of data and bio-specimen collections does not correspond with an equal increase in data/sample-sharing and data/sample access. Contradictory legal and ethical frameworks across national borders are obstacles to effective sharing: more specifically, the absence of an integrated model proves to be a major logistical obstruction. The Charter intends to amend the obstacle by providing both the ethical foundations on which data sharing should be based, as well as a general Material and Data Transfer Agreement (MTA/DTA). This Charter is the result of a careful negotiation of different stakeholders' interest and is built on earlier consensus documents and position statements, which provided the general international legal framework. Further to this, the Charter provides tools that may help accelerate sharing. The Charter has been formulated to serve as an enabling tool for effective and transparent data and bio-specimen sharing and the general MTA/DTA constitutes a mechanism to ensure uniformity of access across projects and countries, and may be regarded as a consistent basic agreement for addressing data and material sharing globally. The Charter is forward looking in terms of emerging issues from the perspective of a multi-stakeholder group, and where possible, provides strategies that may address these issues.
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4.
  • Mascalzoni, Deborah, et al. (författare)
  • Rare diseases and now rare data?
  • 2013
  • Ingår i: Nature reviews genetics. - 1471-0056 .- 1471-0064. ; 14:6, s. 372-
  • Tidskriftsartikel (refereegranskat)
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5.
  • Mascalzoni, Deborah, et al. (författare)
  • Rare diseases and now rare data?
  • 2013
  • Ingår i: Nature reviews genetics. - 1471-0056 .- 1471-0064. ; 14:6, s. 372-372
  • Tidskriftsartikel (övrigt vetenskapligt)
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6.
  • Thompson, Rachel, et al. (författare)
  • RD-Connect : An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
  • 2014
  • Ingår i: Journal of general internal medicine. - 0884-8734 .- 1525-1497. ; 29:S3, s. S780-S787
  • Forskningsöversikt (refereegranskat)abstract
    • Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.
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  • Resultat 1-6 av 6

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