Publications by authors named "Celina Ann M Tobias-Grasso"

Objective: Recent advances in epigenetic studies continue to reveal novel mechanisms of gene regulation and control, however little is known on the role of epigenetics in sensorineural hearing loss (SNHL) in humans. We aimed to investigate the methylation patterns of two regions, one in and another in in Filipino patients with SNHL compared to hearing control individuals.

Methods: We investigated an promoter region that was previously identified as differentially methylated in children with SNHL and lead exposure.

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Hearing loss remains an important global health problem that is potentially addressed through early identification of a genetic etiology, which helps to predict outcomes of hearing rehabilitation such as cochlear implantation and also to mitigate the long-term effects of comorbidities. The identification of variants for hearing loss and detailed descriptions of clinical phenotypes in patients from various populations are needed to improve the utility of clinical genetic screening for hearing loss. Clinical and exome data from 15 children with hearing loss were reviewed.

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Hypothesis: Variants in SLC26A4 are an important cause of congenital hearing impairment in the Philippines.

Background: Cochlear implantation is a standard rehabilitation option for congenital hearing impairment worldwide, but places a huge cost burden in lower-income countries. The study of risk factors such as genetic variants that may help determine genetic etiology of hearing loss and also predict cochlear implant outcomes is therefore beneficial.

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