Usher Syndrome

Bodybuilding Against All Odds

By Mersal Faizi

Meet Elizabeth “Elizzy” Galvan, a 40-year-old professional bodybuilder from Fargo, North Dakota, who doesn’t fit the stereotypical presentation of someone in her chosen sport. She is deaf, lives with Usher syndrome, and has one arm—all so-called limitations that make her success exceptionally inspirational.

Galvan lost her right arm at age 3 in an accident with an old-fashioned washing machine. The same year, she developed a bilateral hearing loss as a result of an illness and was fitted with hearing aids.

Photo Credit: Michael Kehoe

Photo Credit: Michael Kehoe

Galvan’s parents chose to enroll her in North Dakota School for the Deaf at age 3, where she learned to communicate with American Sign Language (ASL). Decades later, this remains her preferred mode of communication. She also uses notes, speech-to-text, and body language when her conversational partner does not know ASL.

During a routine vision screening test in school at age 16, Galvan was diagnosed with Usher syndrome, the most common genetic disorder causing progressive hearing and losses. The diagnosis was unexpected because Galvan does not have a known family connection to Usher syndrome. “This explained why I would always bump into things and lose my balance,” Galvan said.

Galvan’s father required she wear her hearing aids while she was in school. Though the devices improved her hearing, Galvan says she disliked them greatly because she found pride in her deafness and didn't want to change who she was. With the freedom to make her own decisions at 18, Galvan stopped wearing her hearing aids.

As an adult, Galvan learned how to function comfortably with the help of a friend and Usher advocate. Galvan’s friend recommended she ask someone to tap her shoulder when there is a step in front of her, and to use hand gestures close to her face to signal to her that others are present. These methods became necessary when her vision began to worsen and she was mistaken for being rude when bumping into people unknowingly.

In 2015, Galvan underwent a major back surgery that left her weaker than she was before. Through her own research, she discovered bodybuilding would help her regain strength. After just one bodybuilding session at the gym, Galvan felt energized and ready to improve herself mentally and physically. “My conditions don’t limit me, but motivate me to become stronger,” Galvan says.

Galvan exercises independently in facilities that fit her needs. Before joining or using a new gym, she carefully evaluates the space and equipment to make sure it’s well-lit and spacious.  She wants to make sure it's safe to work out in without further injuring herself.

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Still fairly new to bodybuilding, Galvan has already won awards in the sport. She has earned  second, third, and fourth place trophies in competitions and received an award for inspiring others from the National Physique Committee, the largest amateur bodybuilding organization in the U.S. Galvan will participatie in her third bodybuilding competition in October 2019.

Galvan considers her bodybuilding journey her way of showing people she is capable of defeating the odds. “Disabilities don’t prevent us from doing anything,” she says, “they just make us do things differently.”

Former marketing & communications intern Mersal Faizi studies corporate communications at Baruch College.

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Flying My Way

By Ryan Vlazny

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Airplanes and learning about their mechanisms have always made me feel alive. My longtime fascination with all things aerospace inspired my desire to work with computers for a living. But, at times, my hearing and vision loss caused some turbulence.

I was born profoundly deaf and later diagnosed with Usher syndrome―which combines deafness, retinitis pigmentosa (progressive vision loss), and problems with balance―at 8 years old.

Lucky for me, Usher lets me enjoy roller coaster rides with a perspective different than people with typical hearing and vision. I can more acutely feel the car’s ascent up the hill, the hang time at the top, the speed on the drops, the toggling back and forth on the track, and all the loops and twists in between. These sensations are most fun when I ride an inverted coaster―like my first “serious” ride in Oslo, Norway―with the track above me and my feet hanging in the air. I feel like I am flying.

My parents, heavily involved in the Deaf community, decided I’d learn Signing Exact English (SEE)―a manual communication system that, unlike ASL, matches English language and vocabulary―in place of spoken language. By the time I was in the eighth grade, I was fully emerged in mainstream classes, thanks to my parents’ commitment to my language development, and had undergone cochlear implantation. While I cannot understand spoken language with my cochlear implants (CIs), they allow me to hear laughter, birds, music, and the roar of a rollercoaster.

A few years after my CI surgery, airplanes replaced my passion for roller coasters. For my 17th birthday, I had the thrill of riding in an Pitts aerobatic airplane at the airport in Pompano Beach. The 20-minute charter ride felt like being on a roller coaster ride with 4,000 foot drops above the Everglades. The pilot, Jim, did a tricks that felt similar vertical loops on a roller coaster.

My mom and I took an (ordinary) airplane ride to Tallahassee when it was time for me to take the Florida Comprehensive Assessment Test (FCAT), a requirement to graduate high school in the state. There we spoke with government officials about making the test optional for students with hearing loss, and we were successful. Still, after three tries, I passed the FCAT even though the requirement had been eliminated.

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For the remainder of high school I continued on track, taking advantage of computer-related courses like web design and engineering. I was accepted to the Pre-Baccalaureate Engineering Program at the National Technical Institute for the Deaf at Rochester Institute of Technology (RIT), where I enrolled with a major in mechanical engineering concentrating in aerospace. Some math classes, especially differential equations, were too difficult, and with the support of my advisor, I changed my major to information technology (IT). Unlike with engineering, I felt I was able to fully understand and apply the concepts of IT.

As an IT student, I created a greeting card in Adobe Flash, a multimedia software program, about greeting a new student on my make-believe RIT World Airlines. The greeting card was even commended by the university president, Dr. William Destler in a one-on-one meeting.

Few college experiences compare with my opportunity to build my own airplane game in an application development class, though. The game simulated landing a plane, which other students found fun to play. Even though I wasn’t an aerospace student, I still got to enjoy some exciting plane rides at RIT.

Today I work as a Java developer for a financial technology firm, where I couldn’t be happier. I’m proud to be the pilot of my own career.

BIO: Ryan W. Vlazny lives in Pennsylvania.

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With Your Support for Hearing Research, We Can Do Great Work Together

By Sophia Boccard

Your support for Hearing Health Foundation (HHF) inspires me.

I’m thrilled we are moving toward better treatments and cures for hearing and balance conditions together.

I was diagnosed with a hearing loss at age 4 and with Usher syndrome (combined hearing loss and vision loss with balance difficulties) as an adult.

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I know what it is like to be frustrated by something that can make us feel powerless.

Since joining the Board of HHF and following the research programs — the Hearing Restoration Project (HRP), Emerging Research Grants (ERG) and Ménière's Disease Grants (MDG) — I’ve felt empowered.

The HRP has seen the partial regeneration of inner ear hair cells in adult mice and continue their work toward complete regeneration.

ERG and MDG scientists have made discoveries advancing knowledge of tinnitus, Ménière's disease, hyperacusis, Usher syndrome, and auditory processing disorders.

But more progress is needed. With your generosity, HHF can fund more research to accelerate the breakthroughs that will dramatically improve our lives.

Please, if you can, give to our life-changing work. HHF will direct 100% of your gift toward the program you choose. Thank you for your consideration and for being part of our mission.

Warm regards and happy holidays!

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Introducing the 2018 Emerging Research Grantees

By Lauren McGrath

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Hearing Health Foundation (HHF) is pleased to present our Emerging Research Grants (ERG) awardees for the 2018 project cycle.

Grantee Tenzin Ngodup, Ph.D., will investigate neuronal activity in the ventral cochlear nucleus to help prevent and treat tinnitus.

Grantee Tenzin Ngodup, Ph.D., will investigate neuronal activity in the ventral cochlear nucleus to help prevent and treat tinnitus.

15 individuals at various institutions nationwide—including Johns Hopkins School of Medicine, University of Minnesota, and the National Cancer Institute—will conduct innovative research in the following topic areas:

  • Central Auditory Processing Disorder (CAPD)

  • General Hearing Health

  • Hearing Loss in Children

  • Hyperacusis

  • Tinnitus

  • Usher Syndrome

Our grantees’ research investigations seek to solve specific auditory and vestibular problems such as declines in complex sound processing in age-related hearing loss (presbycusis), ototoxicity caused by the life-saving chemotherapy drug cisplatin, and noise-induced hearing loss.

HHF looks forward to the advancements that will come about from these promising scientific endeavors. The foundation owes many thanks to the General Grand Chapter Royal Arch Masons International, Cochlear, Hyperacusis Research, the Les Paul Foundation, and several generous, anonymous donors who have collectively empowered this important work.

We are currently planning for our 2019 ERG grant cycle, for which applications will open September 1. Learn more about the application process.

WE NEED YOUR HELP IN FUNDING THE EXCITING WORK OF HEARING AND BALANCE SCIENTISTS. DONATE TODAY TO HEARING HEALTH FOUNDATION AND SUPPORT GROUNDBREAKING RESEARCH: HHF.ORG/DONATE.

Grantee Rachael R. Baiduc, Ph.D., will identify  cardiovascular disease risk factors that may contribute to hearing loss.

Grantee Rachael R. Baiduc, Ph.D., will identify
cardiovascular disease risk factors that may contribute to hearing loss.

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You Are a Masterpiece

By Sophia Boccard

The day before Fourth of July, 2012, the second diagnosis came in. “It’s true, you have Usher syndrome,” announced the retinal specialist. Baffled and unwilling to accept the corroboration of the first retinal specialist’s initial diagnosis, I immediately responded with, “I’d like another opinion—is there anyone you can recommend?” In between both appointments, I had learned that Usher syndrome is the most common genetic cause of combined deafness and blindness.

Credit: Evan McGlinn

Credit: Evan McGlinn

The hearing loss diagnosis was not a new discovery. It had been detected when I was 4; my parents were told I lost my hearing as a reaction to an antibiotic given to me during an emergency surgery. Since then, having moderate to severe bilateral hearing loss meant wearing hearing aids, attending speech therapy classes, and walking around with an assistive FM listening system in school.

Growing up with a hearing loss gave me a new perspective. I had to learn to defend myself against bullies who would occasionally yank my hearing aids and throw them in the trash. And yet, here I was refusing to accept this “other” condition and learning that I had a combined hearing and vision loss diagnosis. After 26 years of thinking otherwise, it was certainly a rude awakening to learn that the hearing loss was not caused by the antibiotic.

Just a few short weeks before, I had been sitting in my optometrist’s office for a routine eye exam to refill my prescription for contact lenses. The optometrist noticed some inconsistencies during my examinations and asked me to stay for more thorough exams. A standard 20-minute visit turned into a two-hour ordeal. After reviewing the results she somberly referred me to the retinal eye specialist who gave me the initial diagnosis.

This retinal eye specialist—who was the first person to utter, “You have Usher syndrome” to me—had the worst bedside manner. I refused to just take his word for it. Immediately after I left his office I cried—a lot—but then regained my composure and made a few calls to see a second retinal eye specialist doctor for a second opinion.

And so on that day in July, even after the second retinal specialist reiterated the first specialist’s diagnosis, I insisted on seeing a third specialist who would prove them both wrong.

I went to the National Eye Institute (NEI), part of the National Institutes of Health, in Bethesda, Maryland, for the third opinion. It was there at the NEI when everything came to a screeching halt and the final diagnosis was confirmed with a genetic test.

The test showed I was born with the mutated gene USH2A, a double recessive genetic disorder that requires both parents to have the exact same copy of the gene. Usher syndrome has three types—types 1, 2, and 3—each with many subtypes such as Usher 2A, Usher 3A, Usher 1F, etc. Combined there are approximately 400,000 people worldwide who have been diagnosed with Usher syndrome. But even with 400,000 people around the world with Usher, there still isn’t enough information easily accessible for individuals who receive this diagnosis.

Sophia and her family.

Sophia and her family.

That day at the NEI launched the next phase of my life. In the biography of my life, the following four years, 2012 to 2016, could be titled “My Wasted Years.” This is when I became a recluse, felt sorry for myself, and cried. Every. Single. Day. I had no way of expressing my sadness or even articulating my feelings, as I didn’t even know what it was I was feeling and how to cope with it.

Those were the years I felt as if I went blind overnight (and let me be clear, I did not go blind overnight—nor will I go blind overnight). I felt like there was this black cloud following me everywhere, hovering over my head and bringing constant rain, making me feel like a drowned rat.

Depression became my reality and my identity. I told a few people about the diagnosis but couldn’t elaborate on the condition since I felt like my world was ending. My desire to live was negligible. How could I imagine life with no sight? What would the quality of my life be like? What would I do without my independence?

These were all questions that ran through my head as the life I imagined living slowly started disappearing from my mind into total darkness. For four long years I asked myself repeatedly, What is the point? What do I have to look forward to?

Then it hit me. Literally. I was walking through Times Square during rush hour, a scenario that can overwhelm most people, when I slammed into someone who screamed into my face, “Watch where you’re going, a**hole!” It was in that instant that an internal shift took over and I shouted back, “Get out of MY way, a**hole!”

It was then I accepted I needed to stop looking at myself as a victim of a mutated gene and to start owning it.

I took a step back and recognized that all this time I had erroneously pitied myself. I felt sorry for my own future and what I was going to lose, and I forgot what it meant to just live life. In preparing for a future with vision loss, I was preparing for an apocalypse that would never come—unless I let it. I needed to stop judging myself and learn to respect myself all over again.

Thus 2016 marked the year of learning to be in control of my own reality, a brand new chapter in this biography of my life. I reached out to the NEI to connect me with someone with Usher syndrome who was willing to exchange emails and stories. Soon after, the NEI introduced me to another patient with USH2A who, after initially being pen (well, email) pals, we became “Ushties” (Usher + besties). Later that year I went to an Usher Syndrome Conference, held by the Usher Syndrome Coalition, in Seattle, and continued meeting many incredible, inspirational people who today are still some of my closest friends.

With these newfound connections I began advocating for both hearing loss and vision impairment communities. Through a friend, I was introduced to Hearing Health Foundation (HHF) and joined their Young Professionals Board for two years before being invited to sit on HHF’s Board of Directors. I also currently sit on the board of the Usher Syndrome Society and am involved with Young Professionals Groups at both the Foundation Fighting Blindness and the Greater New York Chapter of the ALS Association, fighting the progressive neurodegenerative condition known as Lou Gehrig’s disease.

My fiancé and I have also decided to learn American Sign Language as a tool to communicate with new friends from the Usher community. Fundraising and awareness events have started to fill up my calendar. I look at each event as an opportunity to educate those who are unfamiliar with the importance of hearing and vision health and what it means to lose your hearing or your vision, either in part or completely.

For me, it’s the lack of awareness about how the diagnosis of either hearing or vision loss can have an effect on the individual’s own mental health as well as that of their loved ones. There is not enough support for the recently diagnosed. The public isn’t familiar with how to accommodate someone with hearing or vision loss, and since both conditions are not entirely transparent—it’s difficult for people to recognize that they are communicating with an individual with hearing or vision loss —it makes it that much harder to help.

I’m most proud to have the opportunity to teach willing learners that being deaf or blind is not something to pity but rather something to respect. I strive to demonstrate to others that even with our limitations we can still do everything we want, even if we need a little extra help getting there.

Not too long ago someone said to my fiancé, “Sophia is so lucky to have you. You are an incredible person for staying with her even through her diagnosis.” Wait a second, what? My first thought was that my fiancé is the lucky one! To be fair, neither one of us is any more “lucky” than the other. We both equally  deserve each other—and despite comments like these, mostly well-intended (or not), no one will succeed at making me feel less of a person.

While we can each feel insignificant about our own lives when there are so many success stories of extraordinary people pulling off impossible accomplishments despite their limitations, let’s remember that we are each the star of our own story. We are the masterpieces of our own reality.

My story doesn't have a neat ending or a twist, reassuring the reader with a fairy tale conclusion. I’m just here to remind you, my new friend, that I’m not broken. I’m not half of a person; I’m not someone to “fix.” Usher syndrome is a part of who I am, but it is not my identity. I am a human being, who like any and everyone else, is whole and perfect just as I am.

If you have a health condition, don’t let it consume you. Own it. You are the badass who can survive against all odds. People are lucky to have you in their lives. Remind yourself to feel appreciated, get out there, and please, embrace your newfound celebrity status!

HHF board member Sophia Boccard works in digital marketing and lives in New York City. She wrote about an Usher Syndrome Society event she helped organize. This article original appeared in the Spring 2018 issue of Hearing Health magazine. For references, see hhf.org/spring2018-references.

Empower groundbreaking research toward better treatments and cures for Usher syndrome. If you are able, please make a contribution today.

 
 
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Prenatal Intervention May Be Necessary for Usher Syndrome Treatment

By Carol Stoll

Usher syndrome is a hereditary disorder that affects 1 in 20,000 people worldwide and causes concurrent hearing and vision loss. Though currently there is no cure, scientists have begun to understand the molecular mechanisms of hearing loss in Usher syndrome by identifying the specific mutations in genes associated with auditory hair cell malfunction. Gene-specific targeting has been used to target Usher mutations and restore hearing, but the effectiveness and best timing of the treatment is still being investigated in mouse models. Recent research published in JARO by Emerging Research Grants (ERG) recipient Michelle Hastings, Ph.D., and colleagues shows that early administration of a genetic targeting treatment is critically important for repairing outer hair cells and thus rescuing hearing in those with genetic disorders like Usher syndrome.

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Hastings’ research focuses on type 1 Usher, which is the most severe of three subtypes and is associated with six genes. One of these genes, USH1C, contains the instructions to create a protein that localizes to auditory hair cells and helps to maintain their bundle structure and ability to detect sound waves. A mutation in USH1C causes this protein to be cut short and malfunction, and is thus responsible for type 1C Usher in humans. Adding, or “knocking-in,” the mutation to mouse DNA causes symptoms similar to those of human patients with type 1C Usher. These Usher mice exhibit hearing and vision loss as well as deficits in balance, little or no auditory-evoked brainstem response (ABR), and abnormal eye tests called electroretinograms. The hearing loss is linked to defective or missing inner and outer hair cells in the cochlea of the inner ear.

Antisense oligonucleotide (ASO) therapy is a gene-specific targeting therapy previously used by Hastings and her colleagues to rescue hearing in Usher knock-in mice. ASOs are small strands of nucleotides (the building blocks of DNA and RNA) that are specifically synthesized to bind to the disease-causing mutation site of RNA and block it from creating defective RNA and proteins. The ASO therapy targeting the USH1C mutation was administered to the Usher mice a few days after birth. Hearing was rescued and ABR improved, which is indicative of improved inner hair cell function. However, function of the outer hair cells, which surround the inner hair cells and are responsible for amplifying sounds, was not tested.

Hastings’ most recent study, with Jennifer Lentz, Ph.D.’s research group, investigated whether the timing of ASO treatment is important for rescuing outer hair cells in addition to inner hair cells for full hearing rescue. ASO therapy was administered to knock-in Usher mice of varying ages, and then outer hair cell function was tested by measuring distortion product otoacoustic emissions (DPOAEs) in 1-, 3-, and 6-month-old mice. When two tones are presented in the ear canal, outer hair cells that function normally respond by producing amplified sounds known as DPOAEs. In Usher mice, DPOAEs are not detected, which indicates loss of outer hair cell function. ASO treatment was able to recover outer hair cell function measured by DPOAEs when it was administered one day after birth. However, the treatment was not effective if first administered on or after postnatal day five.

The results of this study indicate that there is a developmental window of time when USH1 gene expression is needed to properly develop auditory hair cells, and thus early genetic treatment is essential for hearing rescue of those with Usher syndrome. In humans, hair cell development occurs early in pregnancy, and thus ASO treatment would likely require very early prenatal intervention. ASOs have been approved for clinical use for a number of different diseases in humans, but more animal research is necessary before moving to clinical trials for ASO therapy for Usher syndrome. Hastings has also published research on testing ASO therapy on prenatal mice, and found that injecting ASOs in the amniotic cavity of pregnant mice can in fact access the cochlea. Hastings’ research has improved the scientific community’s understanding of the functions of inner and outer hair cells and brings us closer to developing a cure for Usher syndrome.

Michelle Hastings, Ph.D., was a 2009 and 2011 Emerging Research Grants scientist. For more, see “Rescue of Outer Hair Cells With Antisense Oligonucleotides in Usher Mice Is Dependent on Age of Treatment” in The Journal of the Association for Research in Otolaryngology.

Empower groundbreaking research toward better treatments and cures for Usher syndrome. If you are able, please make a contribution today.

 
 
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Illuminating Usher Syndrome: A Three-Day Event Series to Bring Deafblindness Out of the Dark

By Sophia Boccard

A crowd of people made their way to Lululemon HUB on 5th Avenue in New York City on the evening of September 11 to participate in Day One of a three-day Usher syndrome event series. The cocktail gathering overflowed with wine, cheese, and spectators against the beautiful backdrop of Lululemon’s community space.

Usher Syndrome Society banner near the portraits in the park. Photo by Rebecca Alexander.

Usher Syndrome Society banner near the portraits in the park. Photo by Rebecca Alexander.

The event, called Rosé in the Dark, was a collaboration amongst four friends, Rebecca Alexander, Peggy Borst, and myself—all of us have Usher syndrome—and Nancy Corderman, a mother to two kids with Usher syndrome. Our objective was to bring insight to life with Usher syndrome through immersive deafblind experiences.

While Usher syndrome itself is quite rare, it is the most common cause of deafblindness—the loss of both hearing and vision. In the United States, the inherited condition affects approximately four babies in every 100,000 births while worldwide, more than 400,000 people are affected with Usher syndrome.

At Rosé in the Dark, we began with a three-person panel discussion. The Q&A was very personal, emotional, and informative. Following the panel, guests participated in a deafblind exercise, wearing goggles that replicate tunnel vision, a common viewpoint for a person with Usher syndrome.

On Tuesday for Day Two, we installed a public exhibit of large portraits of people with Usher syndrome in Washington Square Park. Visitors, tourists, and students from nearby universities all absorbed personal information about these individuals while browsing through the photographs and reading their stories.

For Day Three, we concluded the series with an exercise class led by Rebecca Alexander, who is also a Lululemon Ambassador. Admission to the class was donated to Usher syndrome research.

Sophia Boccard speaks at Rosé in the Dark. Photo by Socrates Figueroa

Sophia Boccard speaks at Rosé in the Dark. Photo by Socrates Figueroa

As an individual with Usher syndrome, building awareness is important. Comprehending the invisible condition and knowing how to help or respond to individuals with the condition can be difficult.

We will be continuing to raise awareness and create more experiences to educate everyone on ways they can help and contribute to this rare but damaging condition.

Sophia Boccard sits on Hearing Health Foundation (HHF)’s Board of Directors and is a digital marketing strategist in the hospitality industry with over a decade of marketing experience in the entertainment industry. “As someone who was born with moderate to severe hearing loss, I've always accepted the loss of hearing as a part of who I am. After being diagnosed with Usher syndrome type 2a in 2012, I realized that a cure for both hearing and vision was something I needed to fight for.”

Empower groundbreaking research toward better treatments and cures for Usher syndrome. If you are able, please make a contribution today.

 
 
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Researcher Discovers Gene Mutation Related to Usher Syndrome Type 3

By Pranav Parikh

Usher syndrome type 3 is an inherited disease in which an individual is born with typical hearing and develops hearing loss in the stages of early childhood. They will most likely develop complete hearing loss by the time they are an adult. Though cases of Usher syndrome type 3 (and its subtypes) are quite infrequent, representing 2 percent of total Usher syndrome cases, the onset symptoms have damaging and often irreversible consequences that severely disrupt the lives of those living with the condition. There is currently no cure for the disease, but cochlear implants have seen some success in providing partial hearing function in patients.

A 3D model of the HARS enzyme, including the catalytic site (where the reaction occurs) and the anticodon site (the part that starts protein synthesis through RNA transcription).

A 3D model of the HARS enzyme, including the catalytic site (where the reaction occurs) and the anticodon site (the part that starts protein synthesis through RNA transcription).

Susan Robey-Bond, Ph.D., a 2012 Emerging Research Grants scientist, and her team at the University of Vermont College of Medicine were able to isolate a mechanism involved in the development of Usher syndrome. Histidyl-tRNA synthetase is an enzyme that is instrumental in protein synthesis. This enzyme, given the acronym HARS, is thought to be involved in the presentation of Usher syndrome type 3B in patients. The early symptoms of temporary hearing and vision loss, hallucinations, and sometimes sudden fatal buildup of fluid in the lungs may be triggered by a fever-causing illness. The hearing and vision loss are eventually severe and permanent.

A graphical representation depicting temperature variation between the wild-type and mutant version of the HARS enzyme .

A graphical representation depicting temperature variation between the wild-type and mutant version of the HARS enzyme.

Usher syndrome type 3B is autosomal recessive, meaning children of parents carrying the gene but who do not display symptoms have a likelihood of developing the disease. It is caused by a USH3B mutation, which substitutes a serine amino acid for a tyrosine amino acid in HARS. The team studying the biochemical properties of the gene compared the Y454S mutation in the HARS enzyme with its wild-type (non-mutated) form and found similar functional biochemical characteristics, as stated in the researchers’ recent paper in Biochemistry.

The amino acid activation, aminoacylation, and tRNA binding functions were all consistent between the mutation and wild-type genes. In later analysis, though, the team found that at an elevated temperature the Y454S substitution was less stable than the wild-type. More specifically, cells from patients containing the Y454S mutation displayed lower levels of protein synthesis, which could explain the onset of deafness these patients experience. How these proteins are implicated in the hearing processes will eventually help develop cures or better treatments for Usher syndrome.

Susan Robey-Bond, Ph.D., was a 2012 Emerging Research Grants recipient. For more, see her Biochemistry paper:, “The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.”

Empower groundbreaking research toward better treatments and cures for Usher syndrome. If you are able, please make a contribution today.

 
 
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Hearing Loss vs. Dizziness: If I Could Choose!

By John V. Brigande, Ph.D.

I was about 9 when hearing loss in my left ear was first detected. The audiologist explained to me that as a result, I may not be able to hear birds singing as easily, and that I may need to concentrate more to understand words starting with “sh,” “k,” or “t.” Sensing my alarm, she tried to reassure me by saying it was unlikely that the hearing loss would affect both ears, and if it did, it would likely not be to the same extent.


Managing the loss of a primary sense is all about adaptation. In grade school, I simply tilted my right ear toward sound sources. Over time my hearing loss became bilateral and progressive, and its cause remains unknown. In graduate school I began using hearing aids and later received a cochlear implant in my left ear. I continue to use a hearing aid in my right ear, and thankfully for the past eight years, my hearing has remained stable, if stably poor.


I have always compensated. At Boston College (where I received my undergraduate, Master’s, and Ph.D., all in the biological sciences) I sat in the front seat of my classes, as close to the speaker as possible. I asked my professors and classmates to face me when they spoke so I could use visual cues to enhance oral comprehension. During postdoctoral training in auditory neuroscience at Purdue University, I was given complimentary assistive listening technology upon my arrival to the lab.


While I do not consider my hearing loss to be a profound limitation personally or professionally, it has certainly sculpted my career path. When picking my area of scientific focus, I settled on a career in auditory neuroscience to better understand hearing loss.


I also reasoned that the auditory research conferences and meetings I’d be attending would likely have assistive listening technology to allow me to participate more fully. I have benefited immeasurably from the scientific community that makes up the Association for Research in Otolaryngology, whose meetings have world-class assistive listening technologies and interpreter services plus overwhelming support of members who have hearing loss.


As I entered my 40s, I experienced vertigo for the first time. The clinical data do not fit with a diagnosis of Ménière’s disease, and the link between my vertigo and hearing loss is unclear.


When I have an acute attack of dizziness, my visual field scrolls from right to left very quickly so that I must close my eyes to avoid profound motion sickness and vomiting. I must lie down until the dizziness subsides, which is usually 12 to 16 hours. I honestly cannot do anything—I can only hope to fall asleep quickly.


Vertigo is a profound limitation for me. With no disrespect or insensitivity intended toward the hearing impaired community—of which I am a passionate member—I would take hearing loss over vertigo in a heartbeat. Dizziness incapacitates me, and I cannot be an effective researcher, educator, husband, or father. Some people perceive an aura before their dizziness occurs, but I do not get any advance warning. Unlike hearing loss, I cannot manage my dizziness—it takes hold and lets go when it wants to.


I recall one episode especially vividly. I was invited to give a seminar at the National Institute on Deafness and Other Disorders (NIDCD) and experienced a severe attack just hours before my flight. Vertigo forced me to reschedule my visit, which was tremendously frustrating. That night, I slept in the bathroom (my best solution when vertigo hits). Vestibular (balance) dysfunction is quite simply a game changer.   


A satisfying part of my research involves trying to define treatments for hearing loss and dizziness. Usher syndrome is a condition combining hearing, balance, and vision disorders. In Usher syndrome type 1, infants are born deaf and have severe vestibular problems; vision abnormalities appear by around age 10. In working with a group of dedicated colleagues at various institutions, we have evidence that fetal administration of a drug in mice with Usher syndrome type 1 can prevent balance abnormalities.


As part of HHF’s Hearing Restoration Project (HRP) consortium, I have been working on testing gene candidates in mice for their ability to trigger hair cell regeneration. This research is exciting as it is leading the HRP into phase 2 of its strategic plan, with phase 3 involving further testing for drug therapies. The probability is that manipulating a single gene will not provide lasting hearing restoration, and that we will need to figure out how to manipulate multiple genes in concert to achieve the best therapeutic outcomes.
It is an exciting time to be a neuroscientist interested in trying to find ways to help patients with hearing loss and balance issues. I am hopeful that we will make progress in defining new ways to treat and even prevent vertigo in the near future and ultimately to discover a cure for hearing loss and tinnitus.

Hearing Restoration Project consortium member John V. Brigande, Ph.D., is a developmental neurobiologist at the Oregon Hearing Research Center. He also teaches in the Neuroscience Graduate Program and in the Program in Molecular and Cellular Biology at the Oregon Health & Science University.

Your financial support will help ensure we can continue this vital research in order to find a cure for hearing loss and tinnitus in our lifetime. Please donate today to fund the top scientific minds working collaboratively toward a common goal.For more information or to make a donation, email us at development@hhf.org

Your help provides hope.

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2011 Grant Recipients Announced

FOR IMMEDIATE RELEASE                                                                                                  
July 26, 2011                                                                                                                      

Contact:
Trisha Donaldson
212-257-6143
tdonaldson@drf.org
www.drf.org

DRF Increases grantmaking:  2011 Grant Recipients Announced

Deafness Research Foundation (DRF)’s National Hearing Health Grants Center is excited to announce that it has awarded over $600,000 to 25 outstanding research scientists in the field of hearing and balance science.  For two years in a row, we are excited to announce an increase in our grantmaking.

Each year, DRF awards research grants to young investigators who are exploring new avenues of hearing and balance science. These funds will support research in the following areas:

  • Fundamental Auditory Research – development, genetics, molecular biology, physiology, anatomy, and regeneration biology;

  • Hearing and Balance Restoration – infants, children and adults

    • cochlear implant, auditory hair cell regeneration, and auditory nerve regeneration;

  • Hearing Loss – aging, noise-induced, otosclerosis, ototoxicity, and otitis media;

  • Central Auditory Processing Disorder;

  • Usher Syndrome; and

  • Vestibular and Balance Disorders (dizziness and vertigo, Meniere's disease).

For this year's grants selection, DRF's Council of Scientific Trustees reviewed applications from scientists at renowned research institutions around the U.S.  The selected research projects received detailed peer review for scientific merit and program relevance.  A complete list of the 2011 grant recipients is provided below, including recipients whose research is funded in whole or part by the DRF Centurion Clinical Research Award, the C.H.E.A.R. Endowment Award, Collette Ramsey Baker Research Award, and The Todd M. Bader Research Grant of The Barbara Epstein Foundation, Inc.

FIRST YEAR HEARING & BALANCE RESEARCH GRANT RECIPIENTS
Keith E. Bryan, Ph.D., University of Iowa, Carver College of Medicine
Investigating the role of cabp1 in kcnq4 channel modulation

Brenton G. Cooper, Ph.D., Texas Christian University
Lateralization of acoustic perception in Bengalese finches

Regie Lyn P. Santos-Cortez, M.D., Ph.D., Baylor College of Medicine
Identification of genes that predispose to chronic otitis media in the at population of Bolabog, Boracay island, Philippines

Elizabeth Dinces, M.D., M.S., Albert Einstein College of Medicine
Effects of aging on selective attention in complex multi-source sound environments

Carolyn P. Ojano-Dirain, Ph.D., The University of Florida College of Medicine
Prevention of aminoglycoside-induced hearing loss with the mitochondria-targeted

Sung-Ho Huh, Ph.D., Washington University School of Medicine
Role of fgfs in cochlear sensory epithelium

Albena Kantardzhieva, Ph.D., Massachusetts Eye and Ear Infirmary
Defining the interaction partners of major proteins in the hair cell's synaptic ribbon

Shuh-Yow Lin, Ph.D., The University of California, San Diego School of Medicine
Molecular mechanisms of synaptic transmission in hair cells

Debashree Mukherjea, Ph.D., Southern Illinois University School of Medicine
Targeting inflammation in prevention and treatment of noise induced hearing loss

Erin K. Purcell, Ph.D., The University of Michigan, Kresge Hearing Research Institute
A stem cell-seeded nanofibrous scaffold for auditory nerve regeneration

Zlatka P. Stojanova, Ph.D., House Research Institute
Epigenetic regulation of the atoh1 gene

Jie Tang, Ph.D., Creighton University School of Medicine
Creation of a pendrin with both motor and transport functions

Ellen S. Wilch, Ph.D., Michigan State University College of Human Medicine
Identification of cis-regulatory gjb2 and gjb6 elements by chromosome conformation capture and investigation of potential cis-regulatory variants in persons with hearing loss and monoallelic mutation of gjb2

Hsiao-Huei Wu, Ph.D., The University of Southern California, Keck School of Medicine
Regulation of inner ear development by hgf, the nonsyndromic hearing loss gene, dfnb39

SECOND YEAR HEARING & BALANCE RESEARCH GRANT RECIPIENTS
Edward L. Bartlett, Ph.D., Purdue University
Cellular bases of temporal auditory processing

Soyoun Cho, Ph.D., Oregon Health & Science University
Dynamics of exo- and endocytosis at hair cells

Frances Hannan, Ph.D., New York Medical College
The role of diaphanous in the auditory cytoskeleton

Michelle Hastings, Ph.D., Rosalind Franklin University of Medicine and Science
Therapeutic correction of ush1c splicing in a mouse model of usher syndrome

Zhengqing Hu, M.D., Ph.D., Wayne State University School of Medicine
Innervation of in vitro-produced hair cell by neural progenitor-derived glutamatergic neurons

Judith S. Kempfle, M.D., Massachusetts Eye and Ear lnfirmary
Influence of bone morphogenetic protein 4 and retinoic acid on differentiation of inner ear stem cells

Neeliyath A. Ramakrishnan, Ph.D., Wayne State University School of Medicine
Molecular interactions of the hair-cell afferent synapse

DRF CENTURION CLINICAL RESEARCH AWARD RECIPIENT

James E. Saunders, M.D., Dartmouth Hitchcock Medical Center
Genetic hearing loss in remote Nicaraguan families

This research award is funded by the Centurions of the Deafness Research Foundation. DRF has partnered with CORE Grants Program of the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) to offer a one-year DRF Centurion Clinical Research Award (CCRA) for clinical research in hearing and balance science.

DRF C.H.E.A.R. ENDOWMENT GRANT RECIPIENT

Patricia White, Ph.D., University of Rochester School of Medicine and Dentistry
1st year grant recipient
The role of foxo3 in hearing protection

The C.H.E.A.R. endowment was created to support an annual sensory-neural Deafness Research Grant. C.H.E.A.R. (Children Hearing Education and Research) was absorbed into DRF in 1991, and we are very proud to continue their legacy of funding research in sensory-neural deafness.

COLLETTE RAMSEY BAKER RESEARCH AWARD RECIPIENT

Kirill Vadimovich Nourski, Ph.D., M.D., University of Iowa Hospitals and Clinics
1st year grant recipient
Temporal processing in human auditory cortex
This research award is made in memory of Deafness Research Foundation’s founder, Collette Ramsey Baker.

THE TODD M. BADER RESEARCH GRANT OF THE BARBARA EPSTEIN FOUNDATION, INC., RECIPIENT

Marcello Peppi, Ph.D., Massachusetts Eye and Ear lnfirmary
2nd year grant recipient
Molecular mechanisms of dexamethasone-mediated protection from acoustic trauma
This research award is funded by The Todd M. Bader Research Grant of The Barbara Epstein Foundation, Inc.

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Deafness Research Foundation is the leading national source of private funding for research in hearing and balance science.  Research made possible by DRF grants has resulted in dramatic innovations that have increased options for those living with hearing and balance disorders, as well as protected those at risk.  Since our inception in 1958, we have awarded over $26.6 million through more than 2,000 scientific research grants to researchers who are dedicated to exploring new avenues of hearing and balance science.  With the potential of hearing restoration through regeneration biology, the scope of DRF-funded research has expanded enormously.  Since 1972, DRF has funded close to 40 research grants that have been instrumental in the development, evaluation and improvement of cochlear implants.  Approximately, 188,000 implant procedures have been completed worldwide with beneficial results, particularly when the procedure is undertaken in infants.  DRF also publishes the award-winning Hearing HealthMagazine.


www.drf.org
Voice (212) 257-6143 • Toll-Free (866) 454-3924 • TTY (888) 435-6104 • Fax (212) 257-6139

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