# Pacific Northwest Undiagnosed Diseases Network Clinical Site

> **NIH NIH U01** · UNIVERSITY OF WASHINGTON · 2021 · $1,054,400

## Abstract

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.

## Key facts

- **NIH application ID:** 10227994
- **Project number:** 5U01HG010233-04
- **Recipient organization:** UNIVERSITY OF WASHINGTON
- **Principal Investigator:** Katrina M Dipple
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,054,400
- **Award type:** 5
- **Project period:** 2018-09-21 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10227994

## Citation

> US National Institutes of Health, RePORTER application 10227994, Pacific Northwest Undiagnosed Diseases Network Clinical Site (5U01HG010233-04). Retrieved via AI Analytics 2026-06-02 from https://api.ai-analytics.org/grant/nih/10227994. Licensed CC0.

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