The Department of Otolaryngology – Head and Neck Surgery at the University of California, San Francisco (UCSF OHNS) is pleased to announce that Jacqueline Harris, MD, has been awarded a Centralized Otolaryngology Research Efforts (CORE) Grant from the American Society of Pediatric Otolaryngology (ASPO).
Dr. Harris, a fourth-year resident at UCSF OHNS, will be the principal investigator on the study, with support from Dylan Chan, MD, PhD, an Associate Professor in Residence and the Director of the Children's Communication Center at UCSF OHNS, and Elliott Sherr, MD, PhD, a Professor of Neurology and Pediatrics and the Director of the Brain Development Research Program.
As outlined in the grant proposal, the study "aims to address disparities in hearing loss (HL) genetics by re-classifying variants that have been identified in under-represented minority (URM) children with sensorineural hearing loss (SNHL) to help with better interpretation and utilization of their HL gene-panel testing results."
The study will contribute to efforts to expand clinical variant databases, making them more representative across racial and ethnic groups by intentional inclusion of URMs groups. The researchers plan to focus on Black, Latino and Native American children with SNHL.
"Because so few URM participants have been enrolled in HL genetics studies, genetic testing for HL is underpowered to yield an informative diagnosis," Dr. Harris wrote in the grant proposal. "These URM individuals have similar numbers of rare variants identified in HL genes, but the variants are significantly more likely to be Variants of Uncertain Significance (VUSs) … Without prior knowledge of their relationship to HL, VUSs usually cannot be used clinically to provide a definitive genetic diagnosis."
SNHL is the most common congenital sensory impairment in children and can be a developmental emergency, as it can have negative effects on a child's speech, language and development if not identified and intervened upon quickly. Permanent hearing loss affects 1 out of every 500 newborns and as many as 15% of adolescents.
Join us in congratulating Dr. Harris on this exciting research opportunity. Since 1985, CORE has awarded more than 600 grants and more than $10 million for research projects, research training and career development to further otolaryngology.
