Translational Auditory & Vestibular Research Day - October 19, 2020 - Shared screen with speaker view
Type your questions here, and Catherine will curate them for Tom, and save in a spreadsheet for discussion after the talk. :)
@Abdoulaye. Interestingly, based on studies we have done and others, GJB2 does not seem to contribute to HL in Africans to the same extent as it does almost everywhere else in the world. The genetic etiology of HL in Africans is unfortunately understudied.
@Margaret Giggey : both. Sometimes the audiogram points to the gene (for example upsloping audiogram for WFS1) or mild-moderate HL for STRC. At the mutation level, there are examples where different mutation types in the same gene give rise to different audiograms/HL, KCNQ4 is an example.
@David Rosenberg: There are dozens of in silico predictive tools. We integrated predictions from 8 algorithms—two assessing conservation (PhyloP and GERP++) and six evaluating deleteriousness (SIFT, PolyPhen-2, MutationTaster, CADD, LRT and REVEL)
This is a question for Dr. Friedman (Rick): Do you have a way to control for the effect of stress on mice coming from “outside”? I have seen relatively substantial differences between mice from outside to mice that were born in our facility
Responses from Dr. Friedman:
Lisa, we will need to assemble large cohorts of humans and look for variants in and around the regions of candidate loci.Kathleen, we have not except that each suffers the same exposure.We are working on binding partners for Fhod3. If you are aware of any would be happy to discuss.
Congratulations Ronna & Hela!!
Congratulations for an outstanding meeting!
Huge congrats to Ronna for a terrific conference!
Thank you all for a great conference
Well done, all. Thanks to the organizers and other panelists for an excellent conference. Congratulations.
Workshop will start at 4:50pm and not 5pm. Stay tuned - we'll start in 4 minutes.
This is probably the first website in our field, and it’s amazing that it has been maintained and up to date after all these years! Thank you to Guy van Camp and Richard Smith for creating it so many years ago!
And hardly a day goes by without my accessing DVD for variant information
Thank you Karen