# BCM Center for Precision Medicine Models

> **NIH NIH U54** · BAYLOR COLLEGE OF MEDICINE · 2020 · $1,989,483

## Abstract

ABSTRACT
The introduction of clinical exome sequencing, whole genome sequencing, RNA sequencing, and metabolomics
has transformed our ability to diagnose patients with suspected genetic disease. With the introduction of these
technologies, a potential molecular DNA lesion can be identified in at least 25-30% of patients with a suspected
genetic diagnosis. These technologies have also led to the discovery of hundreds of new disease genes and to
phenotypic expansion within known genetic diagnoses. This continued discovery of new disease genes leads to
structure, function and mechanistic discoveries that assist personalized approaches for management and
therapy. However, up to 70% of patients with suspected genetic disease remain undiagnosed likely because
their disease-causing variant(s) has yet to be discovered or the clinical significance of identified variants remains
unclear. Precision models produced using various genome modification techniques in Drosophila melanogaster
(fly) and Mus musculus (mouse) are important tools aiding in the interpretation of these variants of uncertain
clinical significance and are critical for testing therapeutic paradigms. We will leverage the expertise,
infrastructures, and established collaborations between the rare, Mendelian disease clinical and gene discovery
programs; fly, mouse, and nonhuman primate animal modeling programs; and database infrastructure programs
within the Department of Molecular and Human Genetics (DMHG) at the Baylor College of Medicine (BCM) to
establish the BCM Center for Precision Medicine Modeling (BCPMM). The vision of our Center is to support
local, national, and international programs and individual researchers in the development of precision models
that will end the diagnostic odyssey of patients with undiagnosed, rare, and Mendelian diseases and serve as
resources for pre-clinical studies investigating personalized medicine approaches to their care. We will
achieve these goals by pursuing the following aims: (1) leverage existing multidisciplinary expertise within BCM
to design, generate, and identify precision animal models for studies that answer clinical questions with impact
on patient care; (2) conduct demonstration projects that showcase the Center’s capacity to model undiagnosed
and rare diseases and to translate model organism findings back to patient care; (3) Engage human genome
discovery programs, clinicians, and researchers to recruit disease-associated variant nominations for precision
model studies within the Center; (4) Perform bidirectional translation of findings from precision animal models
and from patient clinical studies for integration into clinical diagnostics, clinical care, or clinical trials; (5)
Implement bioinformatics platforms that optimize Center disease modeling and organizational activities.
Although our initial focus will build on our expertise in undiagnosed, rare, and Mendelian diseases, our long-term
goal is to broaden our scope by establishing...

## Key facts

- **NIH application ID:** 10131996
- **Project number:** 1U54OD030165-01
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Jason D. Heaney
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,989,483
- **Award type:** 1
- **Project period:** 2020-09-15 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10131996

## Citation

> US National Institutes of Health, RePORTER application 10131996, BCM Center for Precision Medicine Models (1U54OD030165-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10131996. Licensed CC0.

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