Undiagnosed diseases network clinical site

未确诊疾病网络临床网站

• 批准号: 10266763
• 负责人: Daniel James Rader
• 金额: $ 35万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-20 至 2023-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10266763
• 关键词: Accounting; Acute; Address; Admission activity; Adult; Affect; African American; Age; Area; Bioinformatics; Caring; Catchment Area; Categories; Censuses; Center for Translational Science Activities; Child; Clinical; Clinical Research; Communities; Complex; Consultations; Country; County; Coupled; Critical Care; Data; Data Analyses; Diagnosis; Diagnostic; Disease; Economics; Education; Educational Background; Elements; Environmental Exposure; Epigenetic Process; Evaluation; Fetus; Foundations; Future; Geography; Goals; Health; Home; Hospitalization; Hospitals; Human; Immigrant; Immune; Individual; Infrastructure; Inpatients; Institution; Knock-out; Knowledge; Life; Mediating; Medical; Medical Genetics; Medicine; Mid-Atlantic Region; Mission; Mitochondria; Mitochondrial Diseases; Modeling; Modernization; Mosaicism; Mutation; Newborn Infant; Organ; Patient Care; Patients; Pediatric Hospitals; Pennsylvania; Phenotype; Philadelphia; Physicians; Population; Positioning Attribute; Questionnaires; Rare Diseases; Recording of previous events; Research; Resources; Sampling; Socioeconomic Status; Somatic Mutation; Speed; System; Technology; Testing; Thinking; Time; Tooth structure; Toxin; Training; Translating; United States National Institutes of Health; Universities; University Hospitals; Untranslated RNA; Validation; Variant; Vertebral column; Work; base; care coordination; clinical research site; cohort; collaborative approach; disability; education resources; empowered; ethnic diversity; exome; exome sequencing; experience; follow-up; genetic disorder diagnosis; genetic variant; genome sequencing; genomic data; human disease; imaging facilities; improved; innovation; interdisciplinary approach; laboratory facility; multidisciplinary; patient population; programs; research clinical testing; screening; success; synergism; transcriptome sequencing; whole genome

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.

未确诊疾病和罕见疾病的发生与年龄、地理位置、社会经济地位或 教育水平。令人沮丧的是，很难科学地定义它们并对需求进行分类，但罕见疾病 美国有 3000 万人受到影响，而未确诊的人数尚未统计。 2016 年人口普查发现 42 百万人口居住在纽约州/新泽西州/宾夕法尼亚州/德国大西洋中部地区，占美国人口的 13%。我们 根据人口和我们对超过 100 名儿童和超过 100 名成人的统计，认为需要建立一个 UDN 临床站点 每年都出现在我们机构但病情未确诊的人。推荐给 CHOP/UPENN 反映了更大的 集水区不仅仅是四个州的地区，并支持我们的关键论点，即区域需求很高并且 我们准备提供专业知识、协调护理和技术来造福这些患者。现代的 基于医院的诊断方法，其中各个临床团队提出并测试器官或系统- 特定的诊断概念有几个局限性。它未能充分利用患者的全部临床能力 机构并有效地利用先进的测序、生物信息学策略和集体的协同作用 思维。 UDN 计划采用协作方法来满足未确诊患者的需求 患者群体并缓解这些短缺。我们建议以有益的方式利用技术 患者，同时尊重财务限制和临床医生的时间。本申请提出了一种临床 站点作为 UDN 的一部分运行，利用由现有 UDN 优化的工作流程，具有潜力 可能广泛有用的可持续发展效率和战略。目标 1 描述了我们的组织和 包含文档管理和基础设施元素的患者流程。在目标 2 中，评估 外显子组测序未提供信息或怀疑患有非孟德尔遗传的患者 将专门评估疾病。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采集、环境暴露的生物信息方法、“人类 “淘汰筛选核心”的方法和策略，用于教育未来的诊断医生。患者 患有已知疾病的患者将短暂停留，重点关注教育和资源识别。最多 患者病情稳定，但缺乏诊断，通常会在我们的治疗范围内进行为期一周的评估住院治疗 临床和转化研究中心。在逗留期间，我们将进行额外的研究并制定 后续计划。可以使用稳定性和稳定性来评估急症患者、新生儿和胎儿。 住院重症监护病房的管理。我们的提案与 NIH 使命直接相关，因为它使用 应用知识来增强独特和弱势群体的健康、延长寿命并减少疾病和残疾 患者群体。拟议的临床中心拥有宝贵的专业知识和丰富的合作经验 网络、强大的机构支持和针对共同挑战的创造性解决方案 未确诊的患者。