This week on The Genetics Podcast, Patrick is joined by Dr. Ellen Reisinger, Professor and group leader at the University of Tübingen. They discuss her journey into hearing loss research, why otoferlin has become a leading target for gene therapy, and the emerging science shaping the next generation of treatments.

Show Notes: 

0:00 Intro to The Genetics Podcast

00:59 Welcome to Ellen

01:52 Ellen’s career path that coincidentally led to her work on otoferlin-related hearing loss

03:22 Mechanism and advantages of the dual adenoassociated virus (AAV) system 

05:35 The genetic landscape of early-onset hearing loss and why otoferlin stands out

07:42 Why otoferlin-related deafness is an ideal target for postnatal gene therapy development

09:53 Potential next gene therapy targets beyond otoferlin and associated challenges

13:13 Carrier and newborn screening as approaches to preventing hereditary hearing loss

14:37 How far the field is from prenatal gene therapy and why it remains unlikely in the near term

16:07 Exploring gene-agnostic and protective approaches to prevent or slow hearing loss

18:22 How genetics and environment interact in age-related hearing loss

20:00 Current research focus of Ellen’s group on degenerative hearing loss genes and uncovering cell death mechanisms

22:05 Using mouse models and human organoids to study hearing loss mechanisms

23:42 Emerging gene editing approaches 

25:20 Ellen’s research journey from biochemistry to leading gene therapy research in hearing loss 

27:54 Unanswered questions about how inner hair cells release neurotransmitters

29:21 Comparing outcomes of gene therapy and cochlear implants for hearing restoration and differences across languages

34:20 Closing remarks

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