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Study Description

The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). All of the genomic and phenotypic data from this study are accessible through dbGaP. The data is also available at the Kids First Portal, where other Kids First datasets can also be accessed in the cloud for data analysis, data visualization, collaboration and interoperability, open to all researchers and developers.

Microtia is a rare congenital deformity of the external ear, the pinna. The severity of microtia is variable and ranges from subtle deformities in the pinna to absence of the external ear. Microtia is often associated with closure of the external auditory ear canal causing significant hearing loss. Microtia can be an isolated, unilateral or bilateral malformation, or occur solely with ear canal deformities, or with additional craniofacial or syndromic manifestations. Earlier studies of identical twins with microtia demonstrated a significant genetic contribution. The molecular pathogenesis for most microtia remains unknown. We propose to leverage our clinical acumen in diagnosis and treatment of microtia (R.E.), our relationship to the microtia community (M.T.) and our collected DNA samples from microtia patients to identify genetic variant(s) that contribute to this congenital malformation. Microtia prevalence is much higher among Native Americans and some Latin Americans (17 per 10000 Ecuadorian births) than among individuals of European-descent (0.6 -1.6 per 10,000 births). To capitalize on this epidemiologic data, we have recruited microtia cohorts from Latin America and the U.S, including clinical data and DNA samples.

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

Inclusion Criteria: Affected with microtia, of Hispanic ancestry as well as affected and unaffected family members, age newborn/infant to adults, 65 and older, are eligible for study inclusion. Microtia in general affects males and females at equal frequency. Therefore, we anticipate that roughly 50% of microtia subjects will be female. Our proposed trio analyses will include both male and female parents of affected probands. We propose genome sequencing of 200 microtia trios and 200 microtia probands all of Hispanic ancestry.


Exclusion criteria: No special classes of subjects are specifically excluded.


Study History

The collaborating investigators on this application have recruited microtia cohorts across the U.S. and Latin America based on the expertise of Dr. Eavey (co-PI), who has devoted his clinical and research career to studying microtia. Since 1995 Dr. Eavey has evaluated more than 1000 microtia/atresia patients from diverse backgrounds and many have consented for research studies. With clinical associates he has joined surgical teams to care for microtia patients from Ecuador and Colombia, and enrolled ~400 Latino patients for the proposed studies. To further empower this research, Dr. Eavey has joined forces with Ms. Melissa Tumblin (co-investigator), President of the Ear Community Inc., a 501c3 nonprofit organization with a web-based membership of >7500 and more than 30,000 internet hits/monthly (see attached letter). The Ear Community Organization has affiliated associations in Latin America, Spain and elsewhere.  

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Genes
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Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • Jonathan Seidman, PhD. Harvard Medical School.
  • Funding Source
    • 1 X01 HL145690-01. National Institutes of Health, Bethesda, MD, USA.