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Otolaryngology

Significant Accomplishments

Oto-Gen

This past year has seen the development of a next-generation platform to rapidly sequence genes involved in pediatric hearing loss. This platform became a reality in the fall of 2011. Developed through a collaboration of the Ear and Hearing Center and the Molecular Genetics Laboratory at Cincinnati Children’s, the “Oto-gen” will be the first NexGen sequencing platform to target common hearing loss genes. This technology will allow rapid and cost effective screening of genes that will diagnose and assist in treatment of pediatric patients with hearing loss.

Hereditary Deafness

The auditory genetics lab of Saima Riazuddin, PhD, made large strides toward unlocking the mystery of hereditary deafness. Her lab recently identified the MSRB3 gene that is responsible for autosomal recessively inherited deafness (DFNB74) in eight Pakistani families. In addition, her lab recently discovered a new locus for recessively inherited deafness (DFNB86) in another family. These discoveries could lead to diagnostic screening tools and treatments.

Obstructive Sleep Apnea in Down Syndrome

A multidisciplinary project that successfully competed for National Institutes of Health funding looks to create and validate anatomical and physiological computational models of children with Down syndrome who have obstructive sleep apnea and use those models as predicators of success for surgical intervention.