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

> **NIH NIH U01** · BAYLOR COLLEGE OF MEDICINE · 2022 · $785,098

## Abstract

Project Summary
 This is an administrative supplement 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). This includes a full spectrum of service, teaching, and research activities spanning from adult,
pediatric, and prenatal genetic clinical care, to gene discovery and study of disease mechanisms, to a leading
medical genetics diagnostic laboratory joint venture (Baylor Genetics), to clinical training, to clinical treatment
and trials, to community engagement. We propose to complete years' 1-8 work in year 9 of this “with cost
extension” to be supported by this proposed administrative supplement. This includes completion of clinical
evaluation of subjects accrued prior to June 30, 2022. We project that we will have accepted 280 subjects by
that time, 25 above the total NIH milestone of 255 for our site during years 1-8. We will also complete the
multi-omic analyses of our cohort. The functional studies will be advanced and transitioned to completion by
other sources including both NIH and non-NIH supported mechanisms. We expect this work will lead to an
approximately 20 addition manuscripts reporting new genotype-phenotype associations, phenotypic
expansions, and phenotypic delineation of existing syndromes. The Specific Aims are to:
1) Complete multi-omic analyses, and functional/modeling studies in subjects accepted into the CS as part of
milestones in years 1-8.
2) Complete clinical site evaluation, multi-omic analysis, functional studies on subjects accepted in year 8 prior
to July 1, 2022 and those that are in addition to the target NIH milestone of years 1-8.
3) Develop transition plan for functional and modeling studies that are ongoing in support of above subject
evaluations to funding mechanisms and projects outside of the UDN including within BCM the Neurological
Research Institute, the Center for Skeletal Medicine and Biology, and Center for Precision Medicine Modeling.

## Key facts

- **NIH application ID:** 10600465
- **Project number:** 3U01HG007709-08S3
- **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:** $785,098
- **Award type:** 3
- **Project period:** 2014-07-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10600465

## Citation

> US National Institutes of Health, RePORTER application 10600465, BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01) (3U01HG007709-08S3). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10600465. Licensed CC0.

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