Basic Research Programs
Our investigators take a number of approaches to one main goal: to develop novel methods for diagnosing and treating congenital hearing loss and ear malformations. Our basic science research focuses on developmental otology, auditory genetics, mitochondrial genetics and cochlear electrophysiology. Through our strong focus on translation of findings and collaboration with other clinician-scientists, we are working to turn cutting-edge research into cutting-edge care.
Mitochondrial Genetics
The auditory genetics research group, headed by Dr. John Greinwald, in partnership with the Molecular Genetics Laboratory, developed one of the first gene array tests in the US called Otoseq. This test is for detecting the genetic causes of hearing loss in young children and is highly accurate and used by children across the country. Additionally, our research group is participating in the first in human gene therapy trial in the world. This groundbreaking research trial will open novel treatment options for children with genetic hearing loss.
Cochlear Electrophysiology
The Ear and Hearing Center has established a research section focused on cochlear electrophysiology. Our goal is to study the effects of specific gene mutations on the electrophysiology of the inner ear.
The cochlea contains a very specialized fluid (endolymph) that has an unusually high potassium concentration and low sodium concentration. This cochlear compartment also maintains a net 80 millivolt electrical charge that allows it to change incoming sounds into an electrical impulse that the brain can understand as a specific sound. This electrochemical potential is key to the very function of the cochlea.
By measuring the electrical and chemical potential in the cochleae of transgenic mice, we are working to determine the effects of specific gene mutations on cochlear function and how those gene mutations cause deafness. As an example, some of the most common deafness-causing genes are ion transporters, meaning they regulate how ions enter and exit the cochlear compartment. Therefore, it is imperative to understand how these genes affect the electrical and chemical environment in the cochlea.
