# Leveraging Ethnic Anotia-microtia Disparities for Discovery (LEADD) Study

> **NIH NIH R01** · BAYLOR COLLEGE OF MEDICINE · 2024 · $756,407

## Abstract

PROJECT SUMMARY
Anotia/microtia is a birth defect characterized by an absent or hypoplastic external ear; it is estimated that
>80,000 Americans are living with this condition, which causes significant hearing loss in >75% of affected
individuals. This study will identify social/environmental and genetic drivers of anotia/microtia, with an
emphasis on addressing health disparities for Hispanic/Latinx populations. Notably, the birth prevalence of
anotia/microtia is increased in Hispanic relative to non-Hispanic white populations, but Hispanic infants are less
likely to be diagnosed with an anotia/microtia syndrome than their non-Hispanic white peers. This study will
use a three-part approach. First, by leveraging data on >10 million live births and >3,500 cases with
anotia/microtia from population-based birth defects registries in California and Texas, it will evaluate the extent
to which sociodemographic factors explain differences in the birth prevalence of anotia/microtia syndromes
between Hispanic and non-Hispanic populations. Second, using an ancestry-aware genome-wide association
method (Tractor), archived biospecimens from the California Biobank Program and National Birth Defects
Prevention Study, and publicly available whole-genome sequencing data from the Gabriella Miller Kids First
Pediatric Research Initiative, it will identify genetic variants associated with anotia/microtia in Hispanic and
non-Hispanic individuals. Next, it will apply a rigorous machine learning technique to data from the National
Birth Defects Prevention Study (N=699 cases with anotia/microtia and >10,000 controls without birth defects)
to identify maternal exposures associated with anotia/microtia in Hispanic and non-Hispanic populations.
Finally, it will perform an integrative assessment of the role of sociodemographic, genetic, and maternal factors
in determining risk for anotia/microtia. In accomplishing these objectives, the study will: identify drivers of
disparities in anotia/microtia among Hispanic populations; shed light on the etiology of anotia/microtia in
diverse populations by characterizing genetic variants associated with this disease, which will be targets for
future investigation; and identify potentially modifiable maternal exposures that could be used to facilitate
prevention.

## Key facts

- **NIH application ID:** 10896178
- **Project number:** 5R01MD018577-02
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Jeremy Schraw
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $756,407
- **Award type:** 5
- **Project period:** 2023-07-31 → 2028-02-29

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10896178

## Citation

> US National Institutes of Health, RePORTER application 10896178, Leveraging Ethnic Anotia-microtia Disparities for Discovery (LEADD) Study (5R01MD018577-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10896178. Licensed CC0.

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