I am 16 years old and live in California. I was born with Pendred syndrome, which is why I have severe to profound, bilateral hearing loss and wear hearing aids.
A Cell Type–Specific Approach to Detail the Role of a Small Molecule in Hair Cells
Interestingly, some of the genes that were more active in the variant hair cells are typically more active in the supporting cells than in the hair cells. It could be that when miR-96 is a variant, some genes more specific to supporting cells, and which are typically kept turned off in hair cells, incorrectly become activated in hair cells.
Gene Therapy for Hearing Loss: Interpreting Preliminary Clinical Trial Results
Our independent analysis of the clinical trials’ published data yields the following insights on gene therapy for hearing loss from otoferlin variants. The clinical trials provide the first validation of pharmacological treatments for hearing loss.
Recruiting for a Gene Therapy Trial
Right now we are actively recruiting volunteers with hearing loss to participate in an outpatient research study to understand the genes that cause non-syndromic autosomal dominant hearing loss (DFNA).
Hope for Moms When Your Child Is Diagnosed with Hearing Loss
I’m now passionate about helping other moms live their own story of hope and healing amidst hearing loss in their children. I understand how overwhelming it feels for a mom to receive that first diagnosis that your child has hearing loss.
The Gene TMPRSS3 and Me
A teen learns about the genetic cause of her hearing loss, and is spreading the word to find out more.
Writing My Own Future
Growing up in the 1980s, the message that I could achieve as much as my typical-hearing peers just did not exist. I can distinctly remember a school administrator telling my mother that I was going to struggle in my classes, as if I wasn’t even there in the room (and I heard him loud and clear).