# Genomic medicine and gene function implementation for an underserved population

> **NIH NIH R01** · BAYLOR COLLEGE OF MEDICINE · 2022 · $23,715

## Abstract

PROJECT SUMMARY
This is a Diversity supplement for a qualified medical student to join this NHGRI funded project.
This project advances the goal of NHGRI to implement genomic medicine and focuses on
individuals who have not been able to afford DNA testing. The research takes place in the
Department of Molecular and Human Genetics at Baylor College of Medicine. Our team of
clinicians, geneticists, computer scientists, genomicists and model organism researchers has
had long term success with the Undiagnosed Diseases Network (UDN) Model Organisms
Screening Center (MOSC). This has included successfully identifying a number of new disease
genes such as EBF3, IRF2BPL, NACC1, TBX2, and ATP5F1D. We propose to recruit 100
individuals from an underserved population in Houston Texas with suspected rare disease and
without the means to pay for DNA sequencing through insurance. We will provide whole-exome
sequencing which will generate a CAP/CLIA report that we anticipate could diagnose 35-40
individuals per year. The remaining individuals will then be converted to a family-based trio
exome design. All the sequencing costs of this project will be covered by philanthrophic
donation to our hospital and are not budgeted to the grant. We will make every effort to
diagnose the remaining 60 individuals per year through machine learning and informatics using
the MARRVEL platform, Drosophila functional studies of candidate genes and through ongoing
6 month, 12 month and 2 year follow-up with the patients where we will use matchmaking efforts
such as GeneMatcher and Matchmaker exchange as well as our own genomic databases from
the UDN and other studies to come to a genetic diagnosis. Regardless all subjects will receive
genetic counseling from a trained team and will provide us with valuable medical, psychological
and social data to guide how genomic implementation in an underserved population is
perceived, impacts care and impacts the family. This work will not only produce novel insights
into rare disease, diagnosis for undiagnosed families and an expanded role for genomics, it will
guide us in the future to provide genomics and functional research to serve all individuals
regardless of their ability to pay. The student will be involved in all aspects of this project from
patient recruitment, exome re-analysis, interaction with fly lab aspect and return of results to the
family.

## Key facts

- **NIH application ID:** 10621987
- **Project number:** 3R01HG011795-02S1
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** HUGO J BELLEN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $23,715
- **Award type:** 3
- **Project period:** 2021-07-13 → 2026-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10621987

## Citation

> US National Institutes of Health, RePORTER application 10621987, Genomic medicine and gene function implementation for an underserved population (3R01HG011795-02S1). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10621987. Licensed CC0.

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