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

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

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 01:43 How Justin’s daughter’s Usher syndrome diagnosis (USH1B) led to the founding of Safe Sight Now and a mission to accelerate research 05:50 Biggest hurdles to therapeutic development for USH1B 09:15 Progress in the research with new animal models and advances in clinical endpoint development 11:13 How Justin applied design thinking and AI to rapidly learn rare disease science 13:35 Advances in gene delivery approaches for USH1B 16:59 Therapeutic intervention windows in USH1B with early treatment for hearing loss and later options for addressing vestibular and visual impairments 19:49 Save Sight Now’s plans for the next phase of clinical translation and sustainable growth 22:31 Why Justin decided to establish Save Sight Now as an independent nonprofit 24:16 The need for stronger collaboration between patient organizations and biotech companies 27:55 Building global collaborations to expand Save Sight Now’s reach 30:14 How the community can support Save Sight Now’s mission and upcoming fundraising gala 31:21 Closing remarks Find out more Save Sight Now (https://www.savesightnow.org/) Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_...