Jonathon Whitton, AuD, PhD, Decibel Therapeutics - "Auditory Neuropathy and Early Genetic Diagnosis".
Jonathon Whitton AuD, PhD, is a clinician-scientist
and the senior vice president of clinical research and
development at Decibel Therapeutics.
Presentation Abstract:
Title: Auditory Neuropathy and Early Intervention
.
Congenital hearing loss is relatively common as it occurs in 1 of every 500 births. 80%
of all babies born with hearing loss are due to genetic protein deficiencies. Remarkable
advancements in newborn hearing screening over the past 25 years have resulted in
98% of all babies in the US now being tested for hearing loss at birth each year.
However, while most cases of congenital hearing loss are believed to be caused by
genetic protein deficiencies, genetic diagnosis is not pursued for the majority of
children in the US with congenital hearing loss. For children with certain subtypes of
congenital hearing loss (e.g., Auditory Neuropathy Spectrum Disorder), genetic
diagnosis has the potential to assist in making a conclusive diagnosis sooner. The
presenter will discuss the genetics of auditory neuropathy, its diagnostic challenges,
and benefits associated with early genetic diagnosis.