A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region

Soon, Swee Sung; Lopes, Gilberto; Lim, Hwee Yong; Wong‐Rieger, Durhane; Bahri, Salmah; Hickinbotham, Lucy; Jha, Anand K.; Ko, Bor-Sheng; MacDonell, Diana; Pwu, Jasmine; Shih, Ruby; Sirachainan, Ekaphop; Suh, Dongchul; Wale, Janet; Xiao, Zhang; Wee, Hwee Lin

doi:10.1186/s13023-014-0137-1

Cited by 5 publications

(3 citation statements)

References 3 publications

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“…A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region to improve access to care and treatment for patients with RD by looking into three main areas: (a) developing legislative definitions to confer enforceable protection, (b) creating or strengthening policies by objectively measuring the impact brought about by rare diseases and establishing platforms to reach out to the rare disease community, and (c) fostering collaboration across sectors and countries. It is hoped that these suggested actions can catalyze discussions and progress in the region [24]. The Human Varioma Project (HVP) [25] was started in 2006.…”

Section: The Charter On Human Rights and Bioethics Of The United Natmentioning

confidence: 99%

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

Cismondi

Kohan

Adams

et al. 2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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This article addresses the educational issues associated with rare diseases (RD) and in particular the Neuronal Ceroid Lipofuscinoses (NCLs, or CLN diseases) in the curricula of Health Sciences and Professional's Training Programs. Our aim is to develop guidelines for improving scientific knowledge and practice in higher education and continuous learning programs. Rare diseases (RD) are collectively common in the general population with 1 in 17 people affected by a RD in their lifetime. Inherited defects in genes involved in metabolism are the commonest group of RD with over 8000 known inborn errors of metabolism. The majority of these diseases are neurodegenerative including the NCLs. Any professional training program on NCL must take into account the medical, social and economic burdens related to RDs. To address these challenges and find solutions to them it is necessary that individuals in the government and administrative authorities, academia, teaching hospitals and medical schools, the pharmaceutical industry, investment community and patient advocacy groups all work together to achieve these goals. The logistical issues of including RD lectures in university curricula and in continuing medical education should reflect its complex nature. To evaluate the state of education in the RD field, a summary should be periodically up dated in order to assess the progress achieved in each country that signed up to the international conventions addressing RD issues in society. It is anticipated that auditing current practice will lead to higher standards and provide a framework for those educators involved in establishing RD teaching programs world-wide.

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Section: The Charter On Human Rights and Bioethics Of The United Natmentioning

confidence: 99%

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

Cismondi

Kohan

Adams

et al. 2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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“…The need for collective action echoes the multi-stakeholder 'call to action' for improved access to care and treatment for rare diseases in the Asia-Pacific region [20]. In October 2012, patient advocates from across the AsiaPacific region representing rare diseases and rare cancers met in Singapore to discuss common challenges and to consider collaboration at a regional level, with the goals of not only providing a forum for sharing experiences and learning but also increasing their voice and addressing priority issues.…”

Section: Outcomes Of International and Regional Networkingmentioning

confidence: 99%

An Asia Pacific Alliance for Rare Diseases

Wong‐Rieger¹,

Claxton²,

Vines

et al. 2014

Patient

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“…Most importantly, the establishment of the GRDR program has elevated the issue of data standardization and interoperability for rare disease patient registries, to international attention, resulting in a global dialog and significant change in the mindset of registry developers, patient advocacy groups, and other national and international organizations. This change in mindset is evident by the adoption or modification of the GRDR CDEs, use of additional accepted and validated standards, and collaborations to develop additional disease specific standards and CDEs 9,10,11 …”

mentioning

confidence: 99%

NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection

Rubinstein

McInnes

2015

Contemporary Clinical Trials

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The main goal of the NIH/NCATS GRDR® program is to serve as a central web-based global data repository to integrate de-identified patient clinical data from rare disease registries, EHR, clinical data and other data sources, in a standardized manner, to be available to researchers for conducting various biomedical studies, including clinical trials and to support analyses within and across diseases. The aim of the program is to advance research for many rare diseases and, by extension, common diseases as well. One of the first tasks toward achieving this goal was the development of a set of Common Data Elements (CDEs), which are controlled terminologies that represent collected data. The use of CDEs facilitates the integration of patient information. The GRDR CDEs have been the cornerstone of the GRDR repository, as well as of several other national and international patient registries. As a result many new opportunities for collaboration and networking are now available and being pursued. Most importantly, the establishment of the GRDR program has elevated the issue of data standardization and interoperability for rare disease patient registries, to international attention, resulting in a global dialog and significant change in the mindset of registry developers, patient advocacy groups, and other national and international organizations.

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A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region

Cited by 5 publications

References 3 publications

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

An Asia Pacific Alliance for Rare Diseases

NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection

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