Basic science and clinical research continues to be a major focus of the Department of Otolaryngology and Communication Enhancement. Gabriel Corfas, Phd, is the director of basic science research in Otolaryngology. His laboratory investigates the mechanisms that contribute to loss of hearing and balance with the aim of developing tools to treat these disorders.
Learn more about work underway in the Corfas Laboratory.
Other research in the Department includes:
- Studies of sensorineural hearing loss in children
- Studies of the evaluation of pediatric voice disorders
- Clinical applications of neuropsychological diagnostic measures for use with profoundly deaf children
- Establishment of a cochlear implant database
Gene therapy trial will attempt to restore hearing in deaf mice
Sound waves produce the sensation of hearing by vibrating hair-like structures on the inner ear’s sensory hair cells. But how this mechanical motion gets converted into electrical signals that go to our brains has long been a mystery.
“People have been looking for more than 30 years,” says Jeffrey Holt, PhD, of the Department of Otolaryngology at Children’s Hospital Boston. “Five or six possibilities have come up, but didn’t pan out.”
In the Journal of Clinical Investigation, team led by Holt and Andrew Griffith of the National Institute on Deafness and Other Communication Disorders (NIDCD) demonstrated that two related proteins, TMC1 and TMC2, are essential for normal hearing – paving the way for a test of gene therapy to reverse a type of genetic deafness.
Sensorineural Hearing Loss Research Studies
Sensorineural hearing loss (SNHL) is usually permanent hearing loss that results when something is not working in the cochlea (or other parts of the inner ear), hearing nerve or brain. If you/your child have this type of hearing loss (with a newborn/childhood onset), you may qualify for one or more of the following studies:
Gene Chip Study - We have created a Deafness GeneChip that allows us to simultaneously screen for mutations in many different genes that are known to cause deafness. We are currently validating our GeneChip, to determine its performance characteristics. To do this we are recruiting individuals who have:
- Congenital hearing loss, AND
- Tested negative for connexin 26 gene mutations, OR
- Tested positive for only one connexin 26 gene mutation, AND
- No obvious environmental cause for their hearing loss
Preference will be given to individuals with at least one affected sibling (full or half) and parents with normal hearing.
Connexin 26 Study - We are studying the relationship between Connexin 26 mutations and hearing loss, particularly variations in the characteristics of the hearing loss. If you or your child has hearing loss caused by Connexin 26 and/or Connexin 30 mutations, he/she can be a participant in this study.
Novel Gene Discovery Study - We are searching for novel genes involved in hearing loss by studying large families with inherited hearing loss. If you have a large family with hearing loss (five or more persons with hearing loss) and are interested in participating in a study to find the responsible gene, please contact us.
If you have any questions about the studies or if you are interested in becoming a participant, please contact our research assistant, Anna Frangulov at (617) 515-2962 or email@example.com
If you are interested in learning more about the genetic causes of hearing loss, and/or interested in receiving free educational booklets, please visit Harvard Medical School Center of Hereditary Deafness.