Jan 2020 Techno EA
Mitch Albaugh, who works in a law firm during the day and takes centre stage at the theatre at night, used to be an extrovert. After an operation that unexpectedly left Mitchell deeply deaf in his left ear and his right ear suffered from Meniere’s disease, he began to use hearing aids.
After years in hearing aids, Mitch reached a point where hearing aids just weren’t enough. He did not understand his colleagues at work, he did not hear the signals from other actors on stage and he did not feel connected to his loved ones. Mitch felt isolated and went through life on the margins.
Mitch moved to Winter Park in 2005 and started seeing a new audiologist who told him he had to examine the cochlear implants if he wanted better clarity of sound. Hearing aids amplify sounds and can benefit a person with mild to moderate hearing loss. However, when hearing loss progresses from moderate to profound and the hearing aids start to sound like a loud, poorly tuned radio, this is when a cochlear implant can help.
Mitch had a misconception that cochlear implants were like carrying a satellite dish to the side of the head. Instead, his audiologist told him about an available external sound processor the size of a small medallion, and he wouldn’t have to carry a bunch of equipment. After learning about the cochlear implants covered by Medicare, Mitch went to a hearing implant specialist to test and see if he was a candidate for cochlear implants. After being approved, he continued cochlear implant surgery and received the Cochlear Kanso system in his right ear in June 2017. Ten months after his initial surgery, Mitch obtained his second implant in his left ear .
With his cochlear implants, Mitch has returned to the life he loves. Before his implants, Mitch had to withdraw from the action and became a master of ceremonies at the theatre. Now he plays in a play he wrote. Her life has changed for the better in many other ways as well. He can hear his colleagues around the conference table of his law firm, and he can have conversations with his wife, Leslie – even when they are not in the same room! “What I didn’t know was the quality of the sound from the implants – it’s so close to normal.”
Dec 2019 CBS Pittsburgh
When their son Gus wasn’t speaking at nearly two years old, Eve Kollar and her husband were concerned. “He was reacting to movement and changes in light, but not so much to sounds,” said Eve Kollar. An evaluation at Children’s hospital revealed Gus had profound hearing loss, in both ears. “We were devastated when we learned that he was deaf, because it brings up a lot of feelings inside that we’d missed something,” Eve Kollar added.
Dr. David Chi, Chief of Pediatric Otolaryngology at UPMC Children’s Hospital says there’s no way the couple could’ve known what Gus was experiencing. “He had a genetic cause of his hearing loss,” Dr. Chi explained. “There are no other conditions with a genetic hearing loss except for the hearing loss itself.” At Children’s, the family met Dr. Chi. The first step for Gus was trying hearing aids. Eve Kollar explained that didn’t work: “We tried out our Shop-Vac, right behind him, and he didn’t even turn to hear that sound. He wasn’t startled by it.”
The family then decided Gus would have cochlear implant surgery. “Dr. Chi told us that we would have him implanted around Thanksgiving,” Eve Kollar said, “which he was implanted November 27th and we’d have something to be thankful for, and he would be activated before Christmas, so we’d have one of the best Christmases ever, and we really did that year.”
After years of work — learning to recognize sounds and speak — Gus is now thriving in middle school. He shared, “I play violin, I play guitar, I play soccer.” He and his mother are grateful for Children’s. “It’s a very emotional moment when you know that your child does not have one of the five senses and then to be able to provide that,” Eve Kollar said. The priceless gift of hearing, that’s opened a new world for Gus.
Dec 2019 Daily Journal Online
He’s traveled the U.S. and seen a lot … even though he wasn’t always able to hear a lot of it. Still, Leadwood Police Officer Christopher Jayne has been able to defy any limitations his deafness might have presented. “Last year, at Shop with a Cop, there was a small boy who had two cochlear implants. He said he wanted to be a police officer someday,” Jayne said. “I told him he could achieve it if he wanted to, and not to get stopped by any obstacles.”
Jayne didn’t let obstacles get in his way. Not for long. The 39-year-old was born deaf, diagnosed at 3, he said, when he didn’t seem to listen to what was going on around him, and he learned to walk a little later than average. He was fitted with a hearing aid and enrolled in classes full time at the Special School District in St. Louis County, gone for as many as 10 hours in a school day. He eventually attended Highland High School in Illinois as a junior and senior, graduating in 2000.
Diploma in hand, he began to build a colourful resume. He worked for a while as a carpenter, then a diesel mechanic, and eventually moved to Utah to graduate from a Job Corps program that gave him his commercial driver’s license. He soon took a job as an OTR truck driver. “I loved the money, and I liked being on the road, but it did take a toll,” Jayne said. “I couldn’t hear the radio very well, either, and it’s really an isolated job.”
In 2012, the last of his hearing in his left ear was almost shot. He said his right ear had always been completely deaf. According to his mother, Laura Jayne Sampson, he drove another eight months without letting on he was completely deaf, but he knew it couldn’t last. He headed to his grandfather’s farm in Potosi and applied for SSI benefits. “Collecting SSI was depressing to me because all I could do was to sit around and do nothing, when I knew I had the capability of doing something different with my life — to make a difference in the society that we live in,” he said. “Plus, not many people can live on $1,000 a month.”
Jayne resolved to leave SSI. “Through my years as an OTR driver, I have seen a lot of deadly wrecks due to a variety of reasons,” he said. “One in particular, I don’t like to talk about, but it involved children, and it just did me in.” To help keep the highways safe and to help people, he was initially interested in becoming a Missouri state trooper, a future gig he hasn’t yet ruled out. But he also decided to pursue law enforcement to help himself, too. “I wanted to become a police officer to be around people more, to get better social skills, since I had been isolated in a semi truck all those years,” he said.
“He doesn’t care about the money, he wanted to make a difference in people’s lives,” Sampson, his mom, said. “And over the years, I learned that generally speaking, deaf people aren’t very social. It’s a really big thing to come out of his cocoon.” Jayne credits Vocational Rehabilitation’s Melissa Gallup with helping to connect him to tuition help for Mineral Area College’s Law Enforcement Academy, and he found out through her he also qualified for a cochlear ear implant. The difference in sound amazed him. “It was so pleasant,” he said. “Before, when I listened to music, I could just hear the music but I couldn’t make out the words. With this, I can hear everything…
“…Including when people whisper behind my back,” he joked.
In 2017, at 37, he graduated from the law enforcement academy. He soon began his law enforcement career at Leadwood Police Department and continues to pursue various certifications.
“I love every minute of it,” he said about his position on the force. He donates some of his time, fixing numerous vehicles at LPD. He’s bought a few things out of his own pocket to augment his cochlear implant. “The biggest thing is a radio I can plug my implant into to use on the job,” he said. “The radio is digital with a crystal clear sound. It makes all the difference.” No longer isolated in the cab of a truck, he works over his shift helping other officers in his department, particularly with rookies on the force.
St. Francois County Sheriff's Department's Shop With a Cop is something he looks forward to every year, and if he can find that one kid with a cochlear implant who isn’t sure he or she can make it into the world of law enforcement, he can convince him to pursue his dreams regardless of the obstacles of a physical disability.
Sampson said she’s been inspired every day by her son's accomplishments.“I always hug him and let him know how proud I am to be his mother,” she said. “He’s ‘blue’ now, so you never know if he will make it home. He always tells me not to worry, if he died today he would die happy doing the thing he loves, serving people.”
July 2019 Harvard Gazette
Optimised gene-editing system halts hearing loss in mice with hereditary deafness
Scientists at Harvard Medical School and Boston Children’s Hospital have used a novel gene-editing approach to salvage the hearing of mice with genetic hearing loss, and have succeeded in doing so without any apparent off-target effects as a result of the treatment. The animals — known as Beethoven mice — were treated for the same genetic mutation that causes progressive hearing loss in humans, culminating in profound deafness by the mid-20s. The new approach, described in Nature Medicine, involves an optimised, more precise version of the classic CRISPR-Cas9 gene-editing system that is better at recognising the disease-causing mutation seen in Beethoven mice. The refined tool allowed scientists to selectively disable the defective copy of a hearing gene called Tmc1, while sparing the healthy copy.
Notably, the researchers report, their system managed to recognise a single incorrect DNA letter in the defective copy among 3 billion letters in the mouse genome. Much more work remains to be done before even a highly precise gene-editing therapy like this one could be used in humans, the researchers cautioned. However, they said, the work represents a milestone because it greatly improves the efficacy and safety of standard gene-editing techniques. “Our results demonstrate that this more-refined, better-targeted version of the now-classic CRISPR/Cas9 editing tool achieves an unprecedented level of identification and accuracy,” said study co-senior investigator David Corey, the Bertarelli Professor of Translational Medical Science in the Blavatnik Institute at Harvard Medical School.
Furthermore, the team said, the results set the stage for using the same precision approach to treat other dominantly inherited genetic diseases that arise from a single defective copy of a gene.
Everyone inherits two copies of the same gene, one from each parent. In many cases, one normal gene is sufficient to ensure normal function that spares the individual from disease. By contrast, in so-called dominantly inherited genetic disorders, one defective copy can cause illness. “We believe our work opens the door toward a hyper-targeted way to treat an array of genetic disorders that arise from one defective copy of a gene,” said study co-senior investigator Jeffrey Holt, Harvard Medical School professor of otolaryngology and neurology at Boston Children’s Hospital, who is also affiliated with the F.M. Kirby Neurobiology Centre at Boston Children’s. “This truly is precision medicine.”
The mice carrying the faulty Tmc1 gene are known as Beethoven mice because the course of their disease mimics the progressive hearing loss experienced by the famed composer. The cause of Ludwig van Beethoven’s deafness, however, remains a matter of speculation. In mice, the Beethoven defect is marked by one incorrect letter in the DNA sequence of the Tmc1 gene — an A instead of a T — a single error that spells the difference between normal hearing and deafness.
Disabling, or silencing, the mutant copy of the Tmc1 gene would be sufficient to preserve the animal’s hearing, but how could it be done without inadvertently disabling the healthy gene as well?
Two keys are better than one
Classic CRISPR-Cas9 gene editing systems work by using a guiding molecule — gRNA — to identify the target mutant DNA sequence. Once the target DNA is pinpointed, the cutting enzyme — Cas9 — snips it. So far, these gene editors have shown less-than-perfect accuracy. This is because the guide RNA that leads the Cas9 enzyme to the target site and the Cas9 enzyme that cuts the target DNA are not entirely precise, and could end up cutting the wrong DNA. To circumvent these challenges, researchers adapted a tool originally developed by Keith Joung, HMS professor of pathology, and Ben Kleinstiver, HMS assistant professor of pathology, both at Massachusetts General Hospital. “We took advantage of the fact that this system recognises mutant DNA but not normal DNA and uses a dual recognition system for enhanced precision,” said study first author Bence György, who conducted the work while at Harvard Medical School and is now at the Institute of Molecular and Clinical Ophthalmology in Basel, Switzerland. “This approach resulted in an unprecedented level of specificity in targeting the mutant gene.”
To measure whether the therapy worked in animals rather than just in cells, researchers performed the gold-standard test for hearing. They measured the animals’ auditory brainstem responses, which capture how much sound is detected by hair cells in the inner ear and transmitted to the brain. Without treatment, Beethoven mice typically are completely deaf by 6 months of age. By comparison, mice without the defect retain normal hearing throughout life and can detect sounds at around 30 decibels — a level similar to a whisper.
Two months after receiving the therapy, Beethoven mice exhibited markedly better hearing than untreated siblings carrying the genetic mutation. The treated animals were capable of detecting sounds at about 45 decibels — the level of a normal conversation — or about 16 times quieter than untreated mice. The Beethoven mouse with the greatest hearing preservation was capable of hearing sounds at 25 to 30 decibels, virtually indistinguishable from its healthy peers. Taken together, the findings demonstrate that the novel gene therapy effectively silenced the defective copy of the gene and salvaged the animals’ hearing from the rapid demise typically seen in the disease.
Because the disease is marked by progressive hearing loss, the researchers assessed the effect of therapy on progression over several months. Researchers administered treatment shortly after birth and tested hearing levels in treated and untreated mice with and without the mutation every four weeks for up to six months. In month one, untreated Beethoven mice could hear low-frequency sounds but had notable hearing loss at high frequencies. By month six after birth, untreated Beethoven mice had lost all their hearing. In contrast, treated Beethoven mice retained near-normal hearing at low frequencies, with some showing near-normal hearing even at high frequencies. Notably, treated animals that didn’t carry the genetic defect did not experience any hearing loss as a result of the gene therapy — a finding that demonstrated the safety of the procedure and its ability to selectively target the aberrant copy of the gene. Even more encouragingly, a small subset of treated Beethoven mice that were followed for nearly a year retained stable, near-normal hearing.
Because the Beethoven defect is marked by progressive deterioration and death of hearing cells in the inner ear, the researchers used electron microscopy to visualise the structure of these critical cells.
Sensory hair bundles in the inner ear of a normal mouse (left), a mouse with the Beethoven mutation (middle), and a Beethoven mouse after gene therapy treatment (right). Bundles are nearly normal in the treated mouse
As expected, in the untreated Beethoven mice, the researchers saw gradual loss of hearing cells along with deterioration in their structure. By contrast, treated Beethoven mice and treated healthy mice both retained a normal number of hearing cells with intact or near-intact structure.
In a final experiment, the scientists tested the effect of the treatment in a line of human cells carrying the Beethoven mutation. DNA analysis revealed that treatment caused editing exclusively in the mutant copy of the Tmc1 gene and spared the normal one. Because of its ability to target single-point genetic mutations, the approach holds promise for 15 other forms of inherited deafness also caused by a single-letter mutation in the DNA sequence of other hearing genes
Jan 2019 Medical Xpress
Blood levels of a special protein found only in the inner ear spike after exposure to loud noise, UConn Health researchers report. The findings point the way to blood tests that could warn people at risk of hearing loss before they suffer serious damage.Hearing loss can sneak up on people, slowly muffling the world, but only noticeable once the damage is done. Chronic exposure to loud noises can cause it, as can certain medications. Cisplatin, a cancer drug used to treat solid tumors, and gentamicin, an antibiotic effective against a wide range of bacterial infections, are both known to damage hearing as a side effect. But not all patients treated with them will develop hearing loss, and both of these drugs and others known to damage hearing are still prescribed when their potential benefits outweigh the risk. They are discontinued if hearing loss occurs.
UConn otolaryngologist Kourosh Parham wants to do better than that. "Currently you can only identify hearing loss after it has occurred. Since there's no treatment for it, that's a devastating limitation," Parham says. He and colleagues at UConn Health are collaborating with French pharmaceutical company Sensorion to develop a blood test that can warn patients and their doctors of early damage to the inner ear, before hearing loss is noticeable. Parham and his colleagues report that levels of prestin, a protein found only in cells in the inner ear, rise sharply when those cells are damaged and start to die. Prestin is found specifically in outer hair cells. Outer hair cells serve as amplifiers. The prestin is a special protein that responds to sound waves, by expanding and contracting. It acts like a little muscle, and makes the cells appear to 'dance.' The dancing of the outer hair cells changes the shape of the membrane in the inner ear, amplifying the sound. Because prestin is not found in any other part of the body, increased levels of prestin in the blood could indicate damage to the outer hair cells in the ear. And that is exactly what Parham and colleagues found, when they exposed rodents to very loud noises and then measured their blood levels of prestin. A similar finding was reported last year after mice were exposed to cisplatin.
The next step in the research is to test whether this happens to humans, too. But instead of exposing humans to loud noises, Parham's team wants to collaborate with cancer doctors who treat many patients with cisplatin. The patients can have their hearing and prestin levels tested before going on the drug, and then periodically during their treatment. Anyone whose blood levels of prestin spiked could be tested for early signs of hearing loss and switched to another anticancer drug. Partnering with the military, which often requires members to be regularly exposed to loud noises, is another potential path to putting the prestin test to use.
Nov 2018 Dezeen
These 3D-printed hearing aids could help people who are partially deaf to tune out unwanted background noise, but they also function as regular earphones. Manchester Metropolitan University student Elen Parry designed the hexagonal-shaped earbuds, called Hex, to resemble normal earphones. Aiming to "reduce the stigma" of wearing an aid, her aim is to create a product that can be used by everyone, so that those with hearing loss don't have to feel self-conscious. "People with disabilities often feel excluded and conspicuous because of their medical devices," said Parry, who studied on the Industrial Digitalisation MSc programme. "I want to transform hearing aids into a wearable technology product that gives people better hearing, style and confidence – something that anyone might want to wear," she explained.
The earbuds use a processing chip that differentiates between background noise and active noise, such as music or a voice on a phone call. The earpiece enables users to increase or decrease the volume of background noise themselves, allowing those with hearing difficulties to more easily tune out surrounding noise. As well as immediately improving the quality of hearing, Parry's aids also prevent the user's hearing from deteriorating further. Regular silicone earbuds can be attached to the hearing aids to transform them into headphones. The device can then be connected to Bluetooth to listen to music or receive phone calls.
"I looked into designing something that could create an improved situation for everyone, rather than a niche for people who are seen as less abled," said Parry. She came up with the idea for the product after noticing her cousin feeling self-conscious wearing a standard, over-the-ear hearing aid. "It has been an interest of mine for a while to try to remove stigma through desirable design," she said. "Medical devices tend to stay the same over time – they are designed by engineers, who don't necessarily think about user experience.” A rechargeable graphene battery is inserted into the product. She mocked up the design on computer-aided design (CAD) software and 3D-printed the pieces using medical grade titanium. A rechargeable graphene battery is inserted into the product, with dual connectivity strips for faster charging. "The idea behind creating Hex earbuds was to create a hearing device for everyone, whether you live with hearing loss or perfect hearing," she explained.