# Vanderbilt Center for Undiagnosed Diseases (VCUD) - Biorepository

> **NIH NIH U01** · VANDERBILT UNIVERSITY MEDICAL CENTER · 2022 · $60,000

## Abstract

Project Summary
Undiagnosed Diseases (UD) are constellations of significant signs, symptoms and/or test results that are seen
by specialists over time without discovery of their cause(s), and for which diagnostic procedures and tests have
been exhausted. The goal of the Undiagnosed Disease Network (UDN) is to diagnose UDs and bring answers
that give afflicted individuals hope and ways to improve their health. Our Vanderbilt UDN Clinical Site (VCUD)
is an ideal milieu of excellent patient oriented care, and collaborative research. We formed the VCUD by
combining unique Vanderbilt resources with UDN resources to diagnose difficult UDs. Vanderbilt resources
include: 1) a productive Clinical and Translational Science Award that hosts a large Clinical Research Center
(CRC) that has grown, evolved, and developed an outstanding cohort of clinicians and physician scientists, 2)
a strong, dedicated group of Pediatricians, Internists, Neurologists and Geneticists, 3) bioinformatics experts,
4) the BioVU DNA databank and experts, 5) structural biology investigators, 6) our EMR and REDCap
database, and 7) a strong focus on educating and training the next generation who will help sustain the UDN
over the long-term. We have combined our VCUD team (physicians, bioinformatics experts, research
scientists, Study Coordinator, NPs, GCs), with UDN resources to diagnose UD patients by the following: A)
gathering and analyzing clinical data to form differential diagnoses (clinical hypotheses), B) analyzing next
generation sequencing and other test data to form testable gene hypotheses, C) utilizing unique VUMC
resources including BioVU, PrediXcan, and Structural Biology to prioritize candidate variants (CV), D)
determining the functional effects of non-coding CV, E) testing and merging our clinical and genetic
hypotheses to identify concordant disorders and CV that cause the patients' UD, and F) using VCUD Studios
to discover new diseases and promote translational research to determine mechanisms and lead to
treatments. Using this approach, we have diagnosed 39/50 UDN cases evaluated by our VCUD to date. We
hypothesize that we can use VCUD teams to merge patient care with translational research by synergistically
combining them with distinct VUMC resources to more efficiently diagnose and treat UD patients. Our VCUD
structure will provide the workflow, throughput, and passion needed to test our hypotheses and diagnose and
provide treatment recommendations. We will enhance all these activities in the Phase II (UO1) expansion
through collaborations with the UDN, the Veteran's Administration, Precision Medicine Projects and health care
insurers, to produce an evolving and more sustainable model. Thus, we will accelerate merging patient
oriented specialty care with translational research to improve the diagnosis, care, and understanding of
patients with UD by our specific aims to: 1) Improve the diagnosis and care of UD patients of all ages, 2)
Determine causes of and imp...

## Key facts

- **NIH application ID:** 10600407
- **Project number:** 3U01HG007674-09S2
- **Recipient organization:** VANDERBILT UNIVERSITY MEDICAL CENTER
- **Principal Investigator:** JOY D COGAN
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $60,000
- **Award type:** 3
- **Project period:** 2022-07-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10600407

## Citation

> US National Institutes of Health, RePORTER application 10600407, Vanderbilt Center for Undiagnosed Diseases (VCUD) - Biorepository (3U01HG007674-09S2). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10600407. Licensed CC0.

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