Pacific Northwest Undiagnosed Diseases Network Clinical Site

摘要： 未诊断疾病网络（UDN）的动机是为患者提供诊断的双重目标 他们经历了一个漫长的不成功的诊断奥德赛和科学的机会， 这些独特的病人提供的发现。UDN的影响还扩展到系统化的方法， 未确诊的病人到目前为止，太平洋西北部，美国陆地面积的25%， 在UDN中没有临床研究中心。我们建议填补这一空白。 我们的PNW UDN团队在所有与评估相关的领域拥有深厚而广泛的专业知识， 诊断那些之前经历过无效临床诊断的患者。首先，我们 拥有一支由成人和儿科临床专家组成的多元化团队，其中包括20多名医学遗传学家。 我们还在广泛的医学领域拥有特殊的专业知识，包括神经遗传学， 畸形学、结缔组织疾病和环境健康，以及免疫学， 风湿病和皮肤病的条件，将有利于国家UDN计划。的 拟议的PNW UDN在新型致病基因鉴定方面拥有国际公认的专业知识。 此外，我们的专业知识涵盖广泛的学科，包括药物遗传学，环境 遗传学、转化生物信息学、生物伦理学、医疗保健成果和政策将加强 UDN。具体目标是： 目标1：提供广泛的专家诊断服务，包括深度表型分析，以确定 为成人和儿童的未确诊疾病提供治疗选择。 目标2：提供独特的国家专业知识，以提高UDN的临床和发现能力。 目标3：促进UDN疾病的发现和UDN以外的知识传播。

Abstract: The Undiagnosed Disease Network (UDN) is motivated by the dual goals of providing a diagnosis to patients who have undergone a protracted unsuccessful diagnostic odyssey and by the opportunities for scientific discovery that these unique patients offer. The UDN's impact also extends to systematizing the approach to the undiagnosed patient. To date, the Pacific Northwest, 25% of the U.S. landmass and with significant expertise, has not had a clinical site in the UDN. We propose to fill this gap. Our PNW UDN team has deep and broad expertise across all the areas relevant for evaluating and diagnosing patients who have had a previously unproductive clinical diagnostic odyssey. Foremost, we have a diverse team of expert adult and pediatric clinicians, including more than 20 medical geneticists. We also have special expertise across broad areas of medicine including neurogenetics, dysmorphology, connective tissue disorders, and environmental health, as well as immunological, rheumatological, and dermatological conditions that will benefit the national UDN program. The proposed PNW UDN has internationally recognized expertise in novel pathogenic gene identification. Additionally, our expertise across a breadth of disciplines including pharmacogenetics, environmental genetics, translational bioinformatics, bioethics, healthcare outcomes, and policy will strengthen the UDN. The Specific Aims are: Aim 1: Provide broad expert diagnostic services, including deep phenotyping, to determine the cause of and treatment options for undiagnosed diseases in adults and children. Aim 2: Provide unique national expertise to enhance clinical and discovery capabilities within the UDN. Aim 3: Facilitate UDN disease discovery and knowledge dissemination outside of the UDN.