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Rare disease registries have now been recognized as a global priority for progress both in monitoring and documenting the natural course, and preventing and treating rare diseases. However, a disease registry is only one element of rare disease translational research. Here, we outline what we believe are ten key components in comprehensive rare disease translational research and describe critical relationships between them. These components are: (i) client–practitioner partnerships; (ii) disease registries; (iii) biobanks; (iv) genomics and other -omics platforms; (v) community-based and population-wide studies; (vi) bioinformatics and high performance computing; (vii) interactions with pharma to facilitate drug discovery; (viii) personalized treatments based on genotype-phenotype correlations; (ix) eHealth and a whole of life record; and (x) regulatory frameworks, particularly with regard to specimen and data sharing, and the return of results. Each component has its own inherent complexity, but if effectively integrated they will provide a comprehensive approach to the future management of rare diseases, and aid health care providers in delivering services to individuals affected with rare diseases. We demonstrate that navigation through the roadmap can provide relevant health stakeholders with a blueprint to understand the challenges and barriers which need to be overcome within and across the constituent components. The rare disease roadmap will assist decision-making at all health stakeholder levels and enable the seamless integration of new knowledge, standard operating procedures and the implementation of best practice.  相似文献   

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Abstract

Costello syndrome is a rare genetic disorder that affects virtually all aspects of an individual’s life. Few specialists have been trained to understand the condition and provide guidance to caregivers and virtually no traditional information sources (e.g. books, websites) exist to provide information to caregivers. In this case, the community becomes a major source of information for caregivers of individuals with this condition. This study examines the types of information that need to be expressed in one of these communities: an online Facebook group. The categories of information need to be identified in the study to demonstrate areas of concern to caregivers and offer areas for further research or publication for researchers of rare disorders and health conditions. The role of information professionals in satisfying these information needs of caregivers of individuals with Costello syndrome and other rare disorders.  相似文献   

4.

Objectives

To identify challenges that affect the feasibility and rigor of economic models in rare diseases and strategies that manufacturers have employed in health technology assessment submissions to demonstrate the value of new orphan products that have limited study data.

Methods

Targeted reviews of PubMed, the National Institute for Health and Care Excellence’s (NICE’s) Highly Specialised Technologies (HST), and the Scottish Medicines Consortium’s (SMC’s) ultra-orphan submissions were performed.

Results

A total of 19 PubMed studies, 3 published NICE HSTs, and 11 ultra-orphan SMC submissions were eligible for inclusion. In rare diseases, a number of different factors may affect the model’s ability to comply with good practice recommendations. Many products for the treatment of rare diseases have an incomplete efficacy and safety profile at product launch. In addition, there is often limited available natural history and epidemiology data. Information on the direct and indirect cost burden of an orphan disease also may be limited, making it difficult to estimate the potential economic benefit of treatment. These challenges can prevent accurate estimation of a new product’s benefits in relation to costs. Approaches that can address such challenges include using patient and/or clinician feedback to inform model assumptions; data from disease analogues; epidemiological techniques, such as matching-adjusted indirect comparison; and long-term data collection.

Conclusions

Modeling in rare diseases is often challenging; however, a number of approaches are available to support the development of model structures and the collation of input parameters and to manage uncertainty.  相似文献   

5.
The National Commission on Orphan Diseases reports staggering and disturbing statistics: 30% of patients suffering from a rare disease must wait up to 5 years to get a diagnosis, 15% take 6 years or more to identify, and 50% reported a diagnosis within 1 year of visiting a doctor. Abbey Meyers, executive director of the National Organization of Rare Disorders (NORD), a Connecticut-based advocacy group, adds, “It was not reported how long patients were suffering with symptoms prior to actually being on a mission to find a solution.”  相似文献   

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Abstract

The National Library of Medicine (NLM) provides many avenues for consumers to find and evaluate online health information. In addition to the consumer health Web sites NLM has developed, there are numerous online training modules available through The National Network of Libraries of Medicine's “National Training Center and Clearinghouse's Educational Database.” This database lists available classes and provides contact information for libraries across the country that offer training and education in using the NLM Web sites and in finding and evaluating health information online.  相似文献   

7.
Abstract

Electronic mailing lists offer a fairly viable, often attractive option for seeking and obtaining consumer health information electronically. Also known as listservs, their availability and lack of physical barriers make them an excellent resource for some situations. On the other hand, there are potential dangers, like misinformation and misunderstandings, with the use of listervs that must not be overlooked. This paper offers a discussion of the pros and pitfalls of listservs as a source of consumer health information.  相似文献   

8.
目的: 评估南京医科大学附属妇产医院(我院)新生儿重症监护病房(neonatal intensive care unit,NICU)罕见病的发生情况,分析罕见病的变化趋势。方法: 选取2013年1月—2020年12月我院分娩出生并在NICU治疗的危重新生儿,血、尿串联质谱筛查及基因检测明确为罕见病,用描述性研究方法对确诊患儿的疾病检出率、临床特征、基因改变及预后随访等情况进行归纳总结。结果: 新生儿总量183 820例,年分娩量从18 863例逐年上升至26 511例,年NICU住院患儿从2 312例上升至2 871例。共筛查出罕见病患儿34例,年罕见病检出率从0.43‰上升至4.39‰。筛查出的罕见病包括神经肌肉-骨骼疾病4例,遗传代谢性疾病18例,内分泌疾病2例,染色体缺失、异常6例,免疫系统疾病1例,其他3例。其中遗传代谢性疾病比例最高(占比约53%),其次为神经肌肉-骨骼疾病(占比约11%)。常规串联质谱筛查诊断的罕见病共15例,其余19例均是通过外显子测序技术确诊。各种罕见病具有其特异的临床表现。34例罕见病患儿中,死亡8例,18例患儿生长发育基本正常,7例患儿存在不同程度生长智力发育落后,1例失访。结论: 新生儿罕见病检出率逐年上升,以常染色体遗传代谢性疾病为主,其病死及后期发育落后比例高。加强对新生儿罕见病临床认知,扩大遗传代谢病筛查范围,加强产前咨询和遗传咨询等是实现优生优育、杜绝罕见病危害的关键。  相似文献   

9.
Rare disease patients are the predominant group of patients who are now connecting online to patient support groups, yet research on their uses of support groups has received little attention. This is a content analysis of three vascular diseases of differing degrees of rarity. Wall posts from Facebook patient support groups for May Thurner syndrome, thoracic outlet syndrome, and superior mesenteric artery syndrome were analyzed over a period of two years. Using Uses and Gratifications as the theoretical framework, the study purpose was to assess how variations in health condition and rarity of condition affect online support group user needs. Results indicated common main cognitive and affective uses across conditions, indicating a consistent pattern of needs communicated by all patients. However, there were nuanced differences in subcategories of cognitive and affective uses between the most and least rare disorders, which inform areas for tailored support mechanisms. Additionally, these vascular patients used their respective support groups primarily for cognitive reasons, especially for the rarest conditions, which informs of basic medical informational needs these patients face related to tests, treatment, surgery, and diagnoses.  相似文献   

10.
Rare diseases are those whose prevalence is below 5 cases per 10,000 inhabitants in the European Community. Most cases are diagnosed during paediatric age due to their genetic origin, while some others are congenital malformations. Nevertheless, a higher prevalence is seen during adulthood as most of the former diseases are very severe and patients die during childhood. At the same time, higher survival rates are related to some chronic rare diseases in adults. The Spanish Network of Research Epidemiology for Rare Diseases (REpIER) developed the first atlas showing the geographical distribution of rare diseases in Spain, assessed the Spanish rare disease registries, contributed to the further development of regional plans on rare diseases, as well as to social and health actions, and established the real group of needs to be solved. These have been included in the Communication of the European Commission on Rare Diseases as well as in the Spanish Senate Presentation.  相似文献   

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