A teen learns about the genetic cause of her hearing loss, and is spreading the word to find out more.
Lily’s congenital hearing loss, the result of a variant in the gene TMPRSS3, led to an interest in scientific research as a high school student and is the topic of her Girl Scout Gold Award.
My name is Lily and I am 15 years old. When I was born, I was diagnosed with profound bilateral hearing loss. At 10 months of age, I became one of the youngest in my state to receive bilateral cochlear implants. My parents were curious about the cause of my hearing loss. One expert told them they would probably never know, but my parents were determined to find out.
After connecting with a scientist at Harvard, my parents learned that the cause of my hearing loss was a variant in the gene TMPRSS3 (Transmembrane serine protease 3). At the time, it was difficult for them to understand the implications. Scientists, primarily in Europe, had undertaken only a few studies. As I've gotten older, I've become more interested in this subject and learned that while there's been progress in the TMPRSS3 field, especially in the past few years, many of the same questions and challenges remain.
Having hearing loss makes me interested in how the world works. Hearing with very complex computers (cochlear implants) and participating in dozens of research studies from the time I was a baby, has grown my interest in science. I currently attend science-focused high school and am learning about and doing research almost daily.
As a result of my passion for solving problems, my desire to help others, and needing to find the perfect project for my Girl Scout Gold Award (the highest honor for a Girl Scout), I created TMPRSS3.org. This website is the first and only of its kind. It's a comprehensive, easy-to-understand source for anyone who wants to know more about the TMPRSS3 gene and its related hearing loss.
By drawing more attention to TMPRSS3, I want to make it easier for individuals, families, universities, hospitals, and cochlear implant clinics to research, grow the knowledge base, and create potential future treatments and discoveries about this gene. More research will ultimately benefit those impacted by this gene. The more we learn about TMPRSS3, the more we can help others.
At 10 months of age, she was one of the youngest in her state to receive bilateral cochlear implants.
There are more than 123 genes linked to hearing loss, and researchers in this space have a lot of competition for their attention. TMPRSS3 is the fifth most common gene causally associated with deafness. Variants of TMPRSS3 gene are the most common causative hearing loss gene in adults undergoing traditional and hybrid cochlear implantation.
TMPRSS3 is a complex gene, and can manifest differently in each person. The TMPRSS3 DFNB-8 variant typically causes a postlingual (after speech) high-frequency/sloping hearing loss, with a slow deterioration of remaining hearing. In contrast, the TMPRSS3 DFNB-10 variant is congenital, a prelingual (before speech) profound hearing loss at birth.
The website TMPRSS3.org includes:
Clear, understandable information about TMPRSS3 and DFNB8/10
Database of 96 TMPRSS3 research studies (dating back to 1996)
Key TMPRSS3 researchers (both past and present) and links to their labs
Opportunities for individuals to get involved with leading-edge TMPRSS3 research
I'm thankful for my advisers and collaborators who continue to help me develop TMPRSS3.org and make it the best it can be. I've been encouraged by all the ear scientists, ENTs, Ph.D.s, and clinical experts who have been so kind with their time and mentoring. You never know the impact of responding to emails from “a 15 year old.”
Throughout my life and through this process of developing my Girl Scout Gold Award TMPRSS3 Resource, I have had to be a strong self-advocate. Making this site available to those who can benefit is extremely necessary and very important to me.
So I ask readers of this story to do a few things. Please share this essential TMPRSS3 resource far and wide, and if possible, link it to your website or share it on social media. I appreciate your interest in hearing loss and look forward to any collaborations in the future to advance the science surrounding the TMPRSS3 gene.
Lily lives in the Midwest with her family. For more, see TMPRSS3.org, email tmprss3@gmail.com, or use the “contact us” box on the bottom the website homepage.
Xi Lin, Ph.D., a 2000–2002 Emerging Research Grants scientist, was a coauthor in one of the studies listed on TMPRSS3.org.
Hearing Health Foundation is now accepting applications for the 2023–2024 cycle of Emerging Research Grants, where pediatric hearing loss and genetics of hearing loss are topic areas. See hhf.org/how-to-apply.
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