Not long ago, scientists thought that deafness was caused by just one gene. This was an incorrect assumption, as there are many genetic mutations that can cause deafness.
In addition to inventing the telephone, Alexander Graham Bell was also known as an educator of the deaf. In 1883, he published a Memorandum to the National Academy of Sciences in which he hypothesized that intermarriage between deaf people might one day result in the formation of a deaf variety among humans, an idea that worried him. To avoid this effect, Bell advocated the closure of boarding schools for the deaf. Cochlear implants are a continuation of Graham Bell's thinking, allowing deaf people to to hear. If the deaf culture disappears, will it be a medical triumph or a cultural genocide?
Deafness and deformities
Dr. Walter E. Nance of the Department of Human Genetics at Virginia Commonwealth University in Richmond, Virginia, has a keen interest in human genetics. His work eventually led him to identify the genes that cause deafness. In his article "The genetics of deafness" published in 2003, he reviews the different possible genetic aspects. Ear deformity, poor stapes fixation, Mondini deformity, Usher's, Jervell's, Pendred's, Alport's, Waardenburg's syndromes... The possible reasons for deafness are many and varied. Often, these syndromes lead to other effects, such as bright blue eyes, pinched nose, hyper or hypo pigmentation spots on the skin for Waardenburg syndrome. But the effects can sometimes be more severe, causing seizures, hair loss, vomiting, syncope, and sometimes even coma and death.
Dr. Nance points to the phenomenal number of genes that control the function and development of the ear. Even within a single syndrome, the number of mutations that can create deafness are numerous (up to 50 different mutations for Waardenburg syndrome).
Treating a disease?
Deafness can be treated with several hearing aids, such as amplifiers, or with the cochlear implants mentioned above, an electronic implant that consists of placing a receiver under the skin as soon as possible, in order to "cure" the deafness. But is it really a disease?
Where hearing parents think that the birth of a deaf child is a tragedy, many deaf people reject the idea that it is a disability that needs to be "fixed. The difference in perception of deafness between deaf and hearing people is very different.
Thus, while the implant is seen as a necessity to cure a disability, it is strongly criticized by the Deaf community as devaluing sign language and Deaf culture in favor of oral language. In one study, more than eight out of ten deaf adults said they would not want an implant to hear if offered. Professor Harlan Lane was an American linguist and professor of psychology at Northeastern University in Boston, Massachusetts. During his career, he was interested in the Deaf community and the differences in perception of this trait. In his article "constructions of deafness", he states that the deaf culture is heterogeneous: because people who became deaf late in life do not live it in the same way as those who were born deaf. But all of them are considered today by the hearing people as handicapped that it is necessary to look after and to help. They are devalued to the point that it is hearing people who are at the service of the deaf.
Deafness is better and better understood by the scientific community: from genetic and environmental causes, more than 120 independent genes can be at the origin of deafness, and about 50% of profound deafness is genetic. But deafness does not have to be treated as a disease, and as Paddy Ladd, the British Deaf leader, said, "We want recognition of our right to exist as a minority language group. Labeling us as disabled demonstrates a failure to understand that we are in no way disabled within our own community."
Lane, Harlan. "Constructions of deafness." Disability & Society 10.2 (1995): 171-190.
Nance, Walter E. "The genetics of deafness." Mental retardation and developmental disabilities research reviews 9.2 (2003): 109-119.