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.

Public Health Relevance

The Undiagnosed Disease Network (UDN) extends the reach of rare disease evaluation and diagnosis by providing access to the undiagnosed patient in all communities. We propose the Pacific Northwest Undiagnosed Diseases Network Clinic (PNW UDN) site to further the goals of the UDN and to provide UDN access to the Pacific Northwest. We propose to leverage our unique existing regional medical and educational infrastructure in the states of Washington, Wyoming, Alaska, Montana, and Idaho, unique genomic strengths, and nationally recognized providers and genomics expertise to provide appropriate UDN patients regional care and national expertise.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project--Cooperative Agreements (U01)
Project #
5U01HG010233-02
Application #
9789919
Study Section
Special Emphasis Panel (ZRG1)
Program Officer
Doss, Argenia Lanisha Necole
Project Start
2018-09-21
Project End
2022-06-30
Budget Start
2019-07-01
Budget End
2020-06-30
Support Year
2
Fiscal Year
2019
Total Cost
Indirect Cost
Name
University of Washington
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
605799469
City
Seattle
State
WA
Country
United States
Zip Code
98195