I would like to share our most recent article: "The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice" #OPA1#Deafness#neuropathy#hearingloss
https://t.co/1nO7oPsqYj
@MORL_Uiowa, we are proud to bring translational research to rare disease communities for renal disease and hearing loss. Today, we celebrate @rarediseaseday
https://t.co/vmLajzTbyB
The Hair Ball Reception (an ARO favorite) starts at 8 PM in Ocean's Ballroom 5-12. Don't miss it! And remember to tag your photos: #ARO2023 and #AROis50
Congrats to @iotaMotion Co-founder and CMO, Marlan Hansen from @IowaOto for being awarded the @AROMWM Innovator Award in Clinical Science last night for his innovations in cochlear implant technology #innovation#ARO2023
Come learn from Joseph Chin about the first "synonymous" variant in DFNA5 that affects splicing and cause dominant hearing loss at poster #SU102@AROMWM#ARO2023@IowaMed@IowaOto
Should you consider dual genetic diagnoses on multigene hearing loss panels? YES!
1/250 probands had dual genetic diagnoses. See
Amanda Schaefer @ poster TU97 to learn about the complexity of counseling and clinical care. @IowaOto@MORL_UIowa
@Affortit_C is presenting his new work “TMC1 p.D569N Mutation Induces Tip-Link Aberrant Morphology & OHC Loss” poster #TU88@AROMWM where he shows the rate of progression of Tmc1 p.D569N associated hearing loss and the variant-specific patterns of Hair cell loss. #ARO2023
@MORL_UIowa work on “The Genetic & Phenotypic Landscapes of TECTA-Related Hearing Loss” demonstrates the importance of expert curation when classifying variants in complex genes. Visit @A_MoniqueWeaver poster# MO93, @AROMWM on 2/13/23 to learn more! #ARO2023
Come check @mariawong_ poster on Copy Number Variants in Hearing Loss Poster #: SA94
Her work shows they account for 1/4 diagnoses of ARNSHL loss & highlights the importance of their comprehensive testing for accurate diagnosis& appropriate genetic counselling & follow-up care