# BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01)

> **NIH NIH U01** · BAYLOR COLLEGE OF MEDICINE · 2022 · $31,094

## Abstract

Project Summary
 This is an administrative supplement 2 for the Baylor College of Medicine (BCM) Undiagnosed
Diseases Network (UDN) Clinical Site (CS). In years 1-8 of the UDN CS, we provided patients with
undiagnosed diseases (UDD) access to state of the art diagnostic methods, accelerated discovery in
diagnosing and managing UDD, elucidated biological mechanisms of identified genetic variants in disease
causation, leading to potential pathways for improved treatments, and actively engaged the UDN and broader
community to share best practices and technology innovations. We have been among the leading extramural
(non NIH UDP) sites in patient acceptances and completion of in person evaluations, achieving 100% target for
these two key milestones of the program. Of the cases with in-person evaluations completed to date, we have
achieved a 36% solve rate with an additional 12% with strong candidates. We have implemented systematic
RNA sequencing on fibroblasts to complement exome and genome sequencing. We have achieved this by
leveraging an integrated genetics program housed within the Department of Molecular and Human Genetics
(DMHG). We propose to complete years' 1-8 work in year 9 of this second “with cost extension” to be
supported by this proposed administrative supplement. This includes completion of clinical evaluation of
subjects accrued prior to July 1, 2022. We project that we will accept an additional 10 subjects and have
completed evaluation of 10 additional by end of year 9 (June 30, 2022). The Specific Aims are to: 1) Review,
recruit, and evaluate 10 new subjects referred by the UDN coordination center as part of the ongoing NIH UDN
protocol. 2) Integrate this UDN workflow into the broader BCM-specific UDN sustainability plan which is to
establish a streamlined standard operating procedure for the Undiagnosed Diseases Center (UDC) at BCM. 3)
Prioritize under/uninsured and under-represented populations for UDN evaluation by leveraging existing
programs with the same focus for referral and recruitment.

## Key facts

- **NIH application ID:** 10677141
- **Project number:** 3U01HG007709-08S4
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Carlos A. Bacino
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $31,094
- **Award type:** 3
- **Project period:** 2014-07-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10677141

## Citation

> US National Institutes of Health, RePORTER application 10677141, BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01) (3U01HG007709-08S4). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10677141. Licensed CC0.

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