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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.

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