Undiagnosed diseases network clinical site

未诊断的疾病和罕见疾病的发生不考虑年龄、地理、社会经济地位或 受教育程度。令人沮丧的是，他们很难科学地定义和分类需求，但却是罕见的疾病。 在美国有3000万人受到影响，尚未确诊的人数尚未统计。2016年的人口普查发现42 生活在纽约/新泽西州/PA/DE大西洋中部地区的100万人，占美国人口的13%。我们 根据人口和我们对100名儿童和100名成人的统计，了解对UDN临床站点的需求 他们每年都会出现在我们的机构中，病情未确诊。转介到CHOP/UPenn反映了更大的 集水区而不仅仅是四个州的地区，并支持我们的关键论点，即区域需求很高， 我们准备提供专业知识、协调的护理和技术，使这些患者受益。现代的 以医院为基础的诊断方法，其中各个临床团队建议并测试器官或系统- 具体的诊断概念有几个局限性。它未能充分利用患者的临床能力 并有效地利用先进的测序、生物信息学策略和来自集体的协同效应 思考。UDN计划带来了一种协作方法，以满足未确诊患者的需求 患者人数，并缓解这些短缺。我们建议以一种有益于 同时尊重财务限制和临床医生的时间。这个应用程序提出了一种临床 作为UDN的一部分运行的站点，该站点利用由具有潜力的现有UDN优化的工作流 可持续发展的效率和战略可能是广泛有用的。目标1描述了我们的组织和 融合了文档管理和基础架构元素的患者流。在目标2中，对 外显子组测序没有提供信息或被怀疑为非孟德尔基因的患者 将对失序进行具体评估。在目标3中，将试行可持续发展战略，包括改进 患者评估期间的数据捕获，环境暴露的生物信息学方法 未来诊断医师教育的“基因敲除筛选核心”方法和策略。病人 患有公认疾病的人将有一段时间专注于教育和资源识别。多数 患者病情稳定，但缺乏诊断，并将有一周的评估性住院时间，通常在我们的 临床和翻译研究中心。在逗留期间，我们将进行额外的研究并制定一项 后续计划。危重病人、新生儿和胎儿可以使用稳定性和 住院重症监护室的管理。我们的建议与美国国立卫生研究院的任务直接相关，因为它使用 应用知识增强健康，延长寿命，减少疾病和残疾的独特和脆弱 病人群体。拟议的临床站点具有宝贵的专业知识、丰富的协作经验 网络、强有力的机构支持和创造性的解决办法，以应对联合国 未确诊的病人。

Undiagnosed diseases and rare diseases occur without respect to age, geography, socioeconomic status or level of education. They are frustratingly hard to define scientifically and to classify needs, yet rare diseases affect 30 million people in the USA and the undiagnosed are as yet uncounted. The 2016 census found 42 million people living in the NY/NJ/PA/DE mid-Atlantic region, accounting for 13% of the USA population. We see a need for a UDN Clinical Site based on population and our accounting of >100 children and >100 adults who appear at our institutions yearly with undiagnosed conditions. Referrals to CHOP/UPENN reflect a larger catchment area than just the four-state area and support our pivotal thesis that the regional need is high and we are poised to deliver expertise, coordinated care, and technology to benefit these patients. The modern approach to hospital-based diagnosis, wherein individual clinical teams propose and test organ or system- specific diagnostic concepts, has several limitations. It fails to take advantage of the full clinical abilities of an institution and efficiently use advanced sequencing, bioinformatic strategies, and synergies from collective thinking. The UDN program has brought a collaborative approach to address the needs of the undiagnosed patient population and to mitigate these shortfalls. We propose to utilize technology in a manner that benefits the patient while being respectful of financial constraints and clinician time. This application proposes a Clinical Site operating as part of the UDN that utilizes work flows optimized by the existing UDN with potential efficiencies and strategies for sustainability that may be useful broadly. Aim 1 describes our organization and patient flow that incorporates document management and infrastructure elements. In Aim 2, the evaluation of patients with exome sequencing that has not been informative or who are suspected of a non-Mendelian disorder will be specifically assessed. In Aim 3, strategies for sustainability will be piloted including improved data capture during patient evaluations, a bioinformatic approach to environmental exposures, a “Human Knockout Screening Core” approach and strategies for the education of future diagnostic physicians. Patients with a recognized disease will have a short stay focused on education and resource identification. Most patients will be stable, but lack diagnosis, and will have a weeklong evaluative inpatient stay typically within our Clinical and Translational Research Center. During the stay, we will perform additional studies and develop a follow-up plan. Acutely ill patients, newborns, and fetuses can be evaluated using stabilization and management in an inpatient critical care unit. Our proposal is directly relevant to the NIH mission since it uses applied knowledge to enhance health, lengthen life and reduce illness and disability in a unique and vulnerable patient population. The proposed Clinical Site has valuable expertise, extensive experience with collaborative networks, strong institutional support and creative solutions to common challenges presented by the undiagnosed patient.