@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
@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 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
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
We're celebrating the International Day of Women and Girls in Science!
Let's look back on the life of Marie Skłodowska Curie: a Nobel Prize laureate who dedicated her life to science and became one of the world's greatest scientists.
#WomenInScience#NobelPrize
Lily is an inspiring young lady! As part of her Girl Scout Gold Award, Lily, a 15-year-old bilateral cochlear implant user, developed website on TMPRSS3, a gene associated with hearing loss. Check out Lily’s inspiring work at https://t.co/3ffsnVKUBN @HearingHealthFn@AROMWM
Wow. I didn't realize this fun project of mine would gain so much traction! I did in fact use my dead pet fish for this research. Even though my fish isn't alive, I'm glad a piece of it is still living on forever! @nanopore
15 years ago my PhD advisor taught me One Weird Trick for editing your own writing. Edit **back to front**, paragraph by paragraph. I still use it and it still surprises me how well it works. When I get my students to do it, it often blows their minds. Try it!