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Molster C.,Office of Population Health Genomics | Youngs L.,Office of Population Health Genomics | Hammond E.,Office of Population Health Genomics | Dawkins H.,Office of Population Health Genomics | And 2 more authors.
Orphanet Journal of Rare Diseases | Year: 2012

Background: Calls have been made for governments to adopt a cohesive approach to rare diseases through the development of national plans. At present, Australia does not have a national plan for rare diseases. To progress such a plan an inaugural Australian Rare Diseases Symposium was held in Western Australia in April 2011. This paper describes the key issues identified by symposium attendees for the development of a national plan, compares these to the content of EUROPLAN and national plans elsewhere and discusses how the outcomes might be integrated for national planning. Methods. The symposium was comprised of a series of plenary sessions followed by workshops. The topics covered were; 1) Development of national plans for rare diseases; 2) Patient empowerment; 3) Patient care, support and management; 4) Research and translation; 5) Networks, partnerships and collaboration. All stakeholders within the rare diseases community were invited to participate, including: people affected by rare diseases such as patients, carers, and families; clinicians and allied health practitioners; social and disability services; researchers; patient support groups; industry (e.g. pharmaceutical, biotechnology and medical device companies); regulators and policy-makers. Results: All of these stakeholder groups were represented at the symposium. Workshop participants indicated the need for a national plan, a national peak body, a standard definition of rare diseases, education campaigns, lobbying of government, research infrastructure, streamlined whole-of-lifetime service provision, case co-ordination, early diagnosis, support for health professionals and dedicated funding. Conclusions: These findings are consistent with frameworks and initiatives being undertaken internationally (such as EUROPLAN), and with national plans in other countries. This implies that the development of an Australian national plan could plausibly draw on frameworks for plan development that have been proposed for use in other jurisdictions. The translation of the symposium outcomes to government policy (i.e. a national plan) requires the consideration of several factors such as the under-representation of some stakeholder groups (e.g. clinicians) and the current lack of evidence required to translate some of the symposium outcomes to policy options. The acquisition of evidence provides a necessary first step in a comprehensive planning approach. © 2012 Molster et al.; licensee BioMed Central Ltd. Source

Baynam G.S.,University of Western Australia | Baynam G.S.,Murdoch University | Walters M.,Princess Margaret Hospital for Children | Dawkins H.,Office of Population Health Genomics | And 4 more authors.
Twin Research and Human Genetics | Year: 2013

With advances in therapeutics for rare, genetic and syndromic diseases, there is an increasing need for objective assessments of phenotypic endpoints. These assessments will preferentially be high precision, non-invasive, non-irradiating, and relatively inexpensive and portable. We report a case of a child with an extensive lymphatic vascular malformation of the head and neck, treated with an mammalian target of Rapamycin (mTOR) inhibitor that was assessed using 3D facial analysis. This case illustrates that this technology is prospectively a cost-effective modality for treatment monitoring, and it supports that it may also be used for novel explorations of disease biology for conditions associated with disturbances in the mTOR, and interrelated, pathways. © The Authors 2013. Source

Mascalzoni D.,Uppsala University | Mascalzoni D.,Center for Biomedicine | Dove E.S.,University of Montreal | Rubinstein Y.,U.S. National Institutes of Health | And 12 more authors.
European Journal of Human Genetics | Year: 2015

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. © 2015 Macmillan Publishers Limited. All rights reserved. Source

Molster C.,Office of Population Health Genomics | Kyne G.,Office of Population Health Genomics | O'Leary P.,Office of Population Health Genomics | O'Leary P.,University of Western Australia | O'Leary P.,Curtin University Australia
Health Promotion Journal of Australia | Year: 2011

Issues addressed:the genomics era the use of valid and reliable tools for the collection of family health histories is proposed as a strategy for identifying those at higher risk of chronic disease and increasing the adoption of risk modifying behaviours. This study investigated the impact of a collection tool for a Family Health History Program in Western Australia upon uptake of key health messages and intentions to adopt risk reducing behaviours for chronic diseases. Methods: Initially a baseline population survey (n=l 009) was undertaken to assess the collection of family health histories among adults and identify target populations for the tool. A targeted intercept survey (n=606) was then conducted with women to assess the tool. Results: Around half the respondents indicated they were motivated to adopt one or more risk reducing behaviours as a result of their exposure to the tool.The odds of being motivated to do something related to family health history were significantly greater for women who liked the tool (AdjOR=3.1,9596CI 2.1 -4.5 ), thought it conveyed useful information (AdjOR=5.0,9596Cl 2.6-9.6), perceived family history to be more important than before they read the tool (AdjOR=3.4,9596Cl 2.3-4.9) and had not previously collected family health history information (AdjOR=1.8, 95%C11.1 3.0). Conclusion: At a whole of population level most adults consider family health history important, but few have actually recorded this information. The tool raised awareness of the importance of family health histories to personal health and was considered personally useful by most respondents. Source

Thompson R.,Newcastle University | Johnston L.,Newcastle University | Taruscio D.,Istituto Superiore di Sanita | Monaco L.,Fondazione Telethon | And 15 more authors.
Journal of General Internal Medicine | Year: 2014

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. © 2014 Society of General Internal Medicine. Source

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