EP 211: Building hope for inherited blindness and deafness with Justin Porcano of Save Sight Now

Описание: Summary: 


This week on The Genetics Podcast, Patrick is joined by Justin Porcano, co-founder and Executive Director of Save Sight Now. They discuss how his daughter’s diagnosis with Usher syndrome type 1B (USH1B) inspired the founding of Save Sight Now, the organization’s efforts to accelerate research and overcome barriers in gene therapy, and the innovative gene delivery methods and therapeutic approaches currently in development.






Show Notes: 


0:00 Intro to The Genetics Podcast


00:59 Welcome to Justin


01:39 How Justin’s daughter’s Usher syndrome diagnosis (USH1B) led to the founding of Safe Sight Now and a mission to accelerate research


05:23 Biggest hurdles to therapeutic development for USH1B


08:36 Progress in the research with new animal models and advances in clinical endpoint development


10:25 How Justin applied design thinking and AI to rapidly learn rare disease science


12:38 Advances in gene delivery approaches for USH1B


15:45 Therapeutic intervention windows in USH1B with early treatment for hearing loss and later options for addressing vestibular and visual impairments


18:32 Save Sight Now’s plans for the next phase of clinical translation and sustainable growth


20:50 Why Justin decided to establish Save Sight Now as an independent nonprofit


22:27 The need for stronger collaboration between patient organizations and biotech companies


25:50 Building global collaborations to expand Save Sight Now’s reach


28:00 How the community can support Save Sight Now’s mission and upcoming fundraising gala


28:59 Closing remarks






Find out more

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Save Sight Now (https://www.savesightnow.org/)


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