Gene Therapy Could Be the Key to Deafness - http://clapway.com/2015/07/09/gene-therapy-could-be-the-key-to-deafness798/

A study published in the Journal Science Translation Medicine has discussed the successful restoration of hearing in mice with genetic forms of deafness by using gene therapy. The research offers hope for children born with genes that cause profound hearing loss.

70 DIFFERENT GENES CAN RESULT IN DEAFNESS

This has opened the doors for researchers to try the same on humans. More than 70 different defective genes are known to result in deafness. The scientists in this study focused on one gene called the TCM1. It is responsible for between 4-8 percent of cases of deafness and plays a central role in hearing by coding for important inner ear protein.

HARVARD MEDICAL SCHOOL’S GENE THERAPY PROTOCOL ISN’T READY

Boston Children’s Hospital and Harvard Medical School has said that their gene therapy protocol isn’t prepared for clinical trials. They need to tweak it a little in order to use it but there are sure that this could be used for therapeutic use in humans.

GENE THERAPY TESTED IN TWO TYPES OF MICE

The researchers tested gene therapy in two types of mutant mice. One type of mice had the TMC1 gene completely deleted and is the perfect model for the recessive TCM1 mutations in humans. Children who have two mutant copies of TCM1 have acute hearing loss from a young age, around two years old. This treatment was tested on two strains of mutant mice, representing different forms of TCM1-related deafness in humans. One mouse had no functioning TCM1 gene, and children with this kind of recessive genetic defect go deaf from a very young age.

The other strain, called Beethoven, had a less common form of TCM1 deafness caused by one copy of the paired genes not working. This “dominant” defect causes children to go deaf gradually from between the ages of 10 to 15.

In the recessive deafness, gene therapy with TCM1 restored the ability of sensory hairs to respond to sound producing a measurable electrical current and restored activity to the auditory part of the brainstem. In the dominant deafness model, gene therapy with a related gene, TCM2 was a success at the cellular and brain level and restored hearing partially, as proven in the startle test.

The researchers of this study have envisioned that deaf patients will have their genome sequenced and a precision medicine treatment injected into the ears to restore hearing. This form of therapy and restoration of hearing might be the replacement for the traditional cochlear implant.

Researchers restored the hearing of deaf mice by injecting a virus with the healthy gene into their inner ears. This gene therapy cure was successfully tested and could be offered to human patients in a little under five years.

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Gene Therapy Could Be the Key to Deafness

Crossing the bridge of language in deaf culture.- http://clapway.com/2015/06/22/my-2-wonderful-years-in-the-deaf-culture/

Austin has an incredible deaf community. We have the Austin School for the Deaf and a great Interpreter program at Austin Community College. While attending college, I was required to take a foreign language and I decided on American Sign Language. It’s something that was on my bucket list of things to learn and I was so excited at the opportunity to do so.

I took the class for 4 semesters and it came very naturally to me. I’m an animated speaker so I use my hands when I talk anyway; why not be saying something with them too? I’ve made friends with so many deaf students and tutors from school, and it honestly is something that still excites me today to be able to talk to a deaf guest when they come into my restaurant.

Many people don’t know that being deaf is not a “handicap.”

To put it simply, deaf culture is just like any other culture where there might be a language barrier. Just as the Germans speak German and we speak English, deaf people speak ASL. Well not speak, but you get my point. Some people actually do speak.

I had a guest back when I was bartending who spoke to me and ordered her meal and drinks and I didn’t notice anything about it. She turned to look at the menu and I asked her a question. When she didn’t respond, I realized she didn’t hear me at all.

It’s actually more common for older deaf people to have some speaking abilities because for many years, their parents sent them to schools that taught them to be like us instead of teaching them how to communicate in their own language; to communicate in a way that they could instead of forcing them to pretend they could hear.

At the time, it was definitely seen as a handicap and parents didn’t want their children to be different. The culture was something that was still new and being learned about. Also, let’s just clear this up right now: if someone is deaf, it does not mean they can read your lips. That’s actually quite an offensive assumption to a deaf person.

Deaf people feel music much more than hearing people.

The most interesting thing I learned about deaf culture (and I really learned so many interesting things) was how they “hear” things. As an ASL student, we were required to attend different deaf events to acclimate ourselves to the culture. One of the first events I went to was an after party for the deaf school’s homecoming game. They had a hardcore band that took the stage by storm! These kids were so good. I was so amazed, and still learning, and didn’t even think of the fact that they could feel the sound vibrations on the stage. That’s how they kept tempo. They were awesome.

“Hearing” Gadgets Galore! Deaf Technology has advanced so much.

There are many different devices that deaf people use to communicate. First, let me mention cochlear implants, which have given many members of the deaf community another option. Basically, these little guys are implanted behind or above the ear and give the ear a sense of sound. I think, as a hearing person, one of the most convenient forms of technology to come out for distance communication is the FaceTime function on the iPhone. For many years, technology has been trying to encompass this concept and there have been devices created with this function, but none that I’ve seen (again, as a hearing person) that is as able and at-your-fingertips.

Earlier this year, the FDA approved a gadget that allows deaf people to “hear” with their tongue. It may not immediately sound like the most appealing way to communicate, but the science behind it is pretty cool. I’m sure your first though was someone licking all over a cell phone-like device. Maybe that was just me?

The FDA has also recently approved a device that will similarly help a blind person to “see.” This new form of “hearing” or “seeing” doesn’t require a surgical implant, unlike the cochlear implant, and is expected to be more affordable. In the same way that the implant sends signals to stimulate the auditory nerve, this new device will take sounds and convert them into patterns and impulses which will then be sent to a smart retainer held the in the mouth. The retainer, when pressed by the tongue, will send out tiny impulses in patterns to stimulate the tongue’s nerves. From there, the signals are relayed to the brain. The similar device made for the blind does the same thing, but will send different patterns for different colors in an image. It records with a camera, attached to a pair of glasses, the person’s surroundings and sends the signals to the mouthpiece.

Crossing The Bridge of Language

I know I’m excited to see how this device adds to my local deaf community. Technology has become such an incredible resource to many different cultures and now even more so to the deaf culture. While most of the technologies mentioned take time to adjust to, and require some training, it’s awesome to see more and more options become available to help bridge the language barrier between so many different cultures.

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My 2 Wonderful Years in the Deaf Culture