Genetic and epigenomic determinants of hearing loss in Hispanic populations

Study category: Ear, Nose, and Throat

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Description

This study aims to identify genes and variants that are related to sensorineural hearing loss (SNHL) in children, including Hispanic children from multiple recruitment sites and non-Hispanic children from Colorado who are diagnosed with severe-to-profound congenital SNHL. We will collect DNA samples from children and their biological parents and submit the DNA samples for sequencing, genotyping and/or methylation studies. These analyses will allow us to identify new genes, variants and gene regions that are associated with SNHL, particularly in Hispanic children.

Details
Age

Child to Adult

Eligibility

1. Any child (up to 18 years old) diagnosed with severe-to-profound SNHL who can provide saliva samples for study. 2. Both biological parents and affected siblings (i.e. with hearing loss) of children with severe-to-profound SNHL satisfying criterion 1. 3. If there is a strong family history of hearing loss, multiple family members both affected and unaffected with hearing loss who will be informative for linkage analyses. 4. Age-, sex-, and ethnicity-matched children (matched per child recruited under criterion #1) who seek consult for other conditions at the same hospital but for non-ear conditions and do not have any history of hearing loss.

Type of Study

Observational

Scope

Local

Locations

Boulder Health Center
Childrens Hospital Colorado

Principal Investigator
Regie Lyn Santos-Cortez,  MD, PhD

Regie Lyn Santos-Cortez, MD, PhD

Study ID

Protocol Number: 21-3609

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