Girl Scout Gold Award
This TMPRSS3 Resource Website is my Girl Scout Gold Award project, the highest honor in Girl Scouts. When I was born I was diagnosed with hearing loss, received Advanced Bionics Cochlear Implants, and my parents decided to do genetic testing. They found out my hearing loss was connected to the Transmembrane Serine Protease 3 / TMPRSS3 gene.
As I've gotten older I've become more interested in this subject and have participated in many hearing research studies over the course of my life. As a result, I have created many connections within the hearing research field like audiologists, speech-language pathologists, research scientists, national hearing loss associations, cochlear implant users, and met many more people through this experience.
Why This TMPRSS3 Hearing Loss Project?
My Girl Scout Gold Award aims to address the lack of understanding and research on the TMPRSS3 gene and its connected hearing loss. TMPRSS3 is a non-syndromic low occurrence genetic mutation. There are more than 123 genes that are linked to hearing loss and researchers in the space have a lot of competition for their attention.
I have created the first comprehensive and easy-to-understand resource/website to connect people and researchers around the world interested in TMPRSS3.
When people are identified with this genetic variant, they often look to the internet. Unfortunately, the current available resources and information are limited and are highly complex.
By drawing more attention to TMPRSS3, it will make it easier for universities, hospitals, and cochlear implant clinics to research, grow the knowledge base, and create potential future treatments.
As genetic testing for hearing loss improves and becomes more affordable and accessible, more information and research is going to be needed to tackle this very complex issue.
Girl Scout Gold Award Committee
Kelly Farquharson, PhD, CCC-SLP
Associate Professor
School of Communication Science and Disorders
Florida State University
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René Gifford, PhD
Professor, Hearing and Speech Sciences
Director, Cochlear Implant Research Laboratory
Vanderbilt University Medical Center
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Mark James, MS
Master of Applied Science in Science Education
Science Teacher
Jourdan Holder, AuD, PhD, CCC-A
Assistant Professor
Director, Cochlear Implant Program
Vanderbilt University Medical Center
Department of Hearing and Speech Sciences
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Girl Scout Gold Award Advisors
Linsey Sunderhaus, AuD, CCC-A
Sr. Research Audiologist
Vanderbilt University Medical Center
Department of Hearing and Speech Sciences
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Heidi L. Rehm, PhD, FACMG
Center for Genomic Medicine, MGH
Chief Genomics Officer, Department of Medicine, MGH
Professor of Pathology, Harvard Medical School
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Hela Azaiez, PhD
Assistant Professor
Department of Otolaryngology, College of Medicine
University of Iowa Hospital and Clinics
Mary Pat Moeller, Ph.D.
Scientist Emerita
Boys Town National Research Hospital
Center for Childhood Deafness, Language and Learning
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Brett Colbert, MD/PhD Candidate
University of Miami Miller School of Medicine