# WASHINGTON UNIVERSITY SCHOOL OF MEDICINE UNDIAGNOSED DISEASES NETWORK CLINICAL SITE

> **NIH NIH U01** · WASHINGTON UNIVERSITY · 2020 · $150,000

## Abstract

1.0 PROJECT SUMMARY
The scientific premise of this application is that the individualized translational research process of the
Undiagnosed Diseases Network (UDN) developed during Phase I is scalable and that its impact on patients,
families, and disease discovery can be advanced and sustained by addition of a Clinical Site at Washington
University School of Medicine (WUSM). WUSM represents a large academic medical center that is fully
integrated with world-renowned basic science capabilities and demonstrated expertise in a gene first approach
for patients with undiagnosed diseases. The highly collaborative clinical and biomedical research culture at
WUSM promotes interactions within and across Departments, with institutional genomic, clinical, computational,
and model system experts, and with colleagues regionally, nationally, and internationally. These interactions
support recruitment, selection, evaluation, diagnosis discovery, and follow up of pediatric and adult patients with
undiagnosed diseases through both established networks and individual referrals. Building on this infrastructure,
WUSM faculty and staff will advance the success of the UDN in diagnosing and managing disease in
undiagnosed patients by, first, using, refining, and improving protocols designed during Phase I of the
UDN for comprehensive, timely clinical evaluations of 30 undiagnosed patients annually. Secondly, we
will collect, securely store, and share standardized, high-quality clinical and laboratory data including
genotyping, phenotyping, and documentation of environmental exposures and promote an integrated and
collaborative community across the UDN and among laboratory and clinical investigators focused on
defining the pathophysiology, cell biologic, and molecular mechanisms that cause these difficult to diagnose
diseases. Thirdly, the WUSM UDN Clinical Site will propose a bioinformatics plan for leveraging institutional
infrastructure and expertise to develop innovative strategies to improve discovery of pathogenic variants.
Fourthly, the assessment, dissemination, outreach, and training plan will accelerate assessment and
dissemination of data, protocols, consent materials, and methods, availability of educational and outreach
materials for participants, clinicians, and other researchers, engagement of underrepresented minorities, and
training for students, fellows, staff, and faculty in collaboration with WUSM’s Clinical and Translational Science
Award infrastructure. Finally, WUSM will make a clear institutional commitment to maintain its Clinical
Site, to adapt UDN Phase I practices for sustainability, to contribute to formation of a sustainable national
UDN resource, and to adapt to unique needs and unexpected circumstances that may arise once
Common Fund support ends in fiscal year 2022.

## Key facts

- **NIH application ID:** 10124937
- **Project number:** 3U01HG010215-03S1
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Francis Sessions Cole
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $150,000
- **Award type:** 3
- **Project period:** 2018-09-21 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10124937

## Citation

> US National Institutes of Health, RePORTER application 10124937, WASHINGTON UNIVERSITY SCHOOL OF MEDICINE UNDIAGNOSED DISEASES NETWORK CLINICAL SITE (3U01HG010215-03S1). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10124937. Licensed CC0.

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