Pacific Northwest Undiagnosed Diseases Network Clinical Site

太平洋西北地区未确诊疾病网络临床站点

基本信息

批准号：
9789919
负责人：
Katrina M Dipple
金额：
$ 137.27万
依托单位：
UNIVERSITY OF WASHINGTON
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-09-21 至 2022-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9789919
关键词：
Adult Alaska Alaska Native American Indians Area Awareness Bioethics Bioinformatics Caring Child Childhood Classification Clinic Clinical Clinical Informatics Clinical Medicine Clinical Protocols Clinical Services Communities Computerized Medical Record Connective Tissue Diseases Continuity of Patient Care DNA Dementia Dermatologic Detection Diagnosis Diagnostic Diagnostic Services Discipline Disease Dysmorphology Electronic Medical Records and Genomics Network Environmental Health Epilepsy Etiology Evaluation Faculty Family Genes Genetic Genetic Predisposition to Disease Genomic medicine Genomics Goals Head Idaho Immunologics Infrastructure International Knowledge Lead Leadership Medical Medical Genetics Medical center Medicine Methods Mind Molecular Diagnostic Testing Montana Nerve Degeneration Oregon Pacific Northwest Participant Pathogenicity Patients Pediatric Hospitals Pharmacogenetics Phase Phenotype Physicians Policies Principal Investigator Program Sustainability Proteomics Provider RNA Rare Diseases Records Research Role Shotguns Site Specialist Structure Training Underrepresented Populations United States National Institutes of Health Universities Variant Washington Wyoming autism spectrum disorder brain malformation care outcomes clinical diagnostics clinical research site clinical sequencing disease diagnosis experience gene discovery improved member metabolomics neurogenetics novel programs tool working group

项目摘要

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.

抽象的：未诊断的疾病网络（UDN）是由为患者提供诊断的双重目标的动机他们经历了一个旷日持久的诊断漫游的人，并且有科学的机会发现这些独特的患者提供的。 UDN的影响也扩展到系统化的方法未诊断的患者。迄今为止，太平洋西北地区，占美国陆地的25％，有重要的专业知识，在UDN中没有临床站点。我们建议填补这一空白。我们的PNW UDN团队在与评估和诊断患有以前没有生产力的临床诊断奥德赛的患者。最重要的是，我们拥有一支由成人和儿科临床医生组成的多元化团队，其中包括20多名医学遗传学家。我们还拥有在包括神经遗传学的广泛医学领域的特殊专业知识，畸形，结缔组织疾病和环境健康以及免疫学，风湿病学和皮肤病学条件将使国家UDN计划受益。这拟议的PNW UDN在新的致病基因鉴定方面具有国际公认的专业知识。此外，我们在包括药物遗传学，环境的广度上的专业知识遗传学，转化生物信息学，生物伦理学，医疗保健结果和政策将加强 udn。具体目的是：目标1：提供广泛的专家诊断服务，包括深层表型，以确定和成人和儿童未诊断疾病的治疗选择。目标2：提供独特的国家专业知识，以增强UDN内的临床和发现功能。目标3：促进UDN疾病发现和知识传播在UDN之外。