How can we, humans, look at our relationship to nature differently? In season three of Going Wild, on top of stories about animals, we invite you to journey through the entire ecological web — from the tiniest of life forms to apex predators — alongside the scientists, activists and adventurers who study it. Wildlife biologist and host Dr. Rae Wynn-Grant has been studying wild animals in their natural habitats all over the world for years. Our award-winning podcast takes you inside the hidde ...
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EP 117: Wendy Chung: whole genome newborn screening and other big opportunities in genomic medicine.
MP3•Pagina episodului
Manage episode 394764814 series 2631947
Content provided by Sano Genetics. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Sano Genetics or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ro.player.fm/legal.
Summary:
0:00 Introduction
1:45 Wendy’s early career looking into the genetics of diabetes through mouse models
6:23 A high altitude view: Cutting through hype to spot the next wave of game-changing technology
8:03 The role of policy and communication: how Wendy’s work goes beyond the lab to create real-world impact
11:20 Wendy’s choice to do an MD PhD, and how that impacted her research career
13:50 What we knew about autism and neurodevelopment in the 2010s, and what we know now
13:50 What we knew about autism and neurodevelopment in the 2010s, and what we know now
18:05 The biggest opportunities for the treatment of rare and ultra-rare diseases
25:00 Breakthrough advances in newborn genetic screening, lessons learned from success in Spinal Muscular Atrophy (SMA)
31:29 The GUARDIAN Study: reporting on whole genome sequencing for 250 conditions and the question of cost-effective screening
37:34 Surprising revisions of our understanding of variant pathogenicity and penetrance
40:22 GUARDIAN study: Eight thousand babies from New York City successfully screened
41:33 The percentage of actionable cases arising from broad newborn whole genome screening
43:50 How do we get to universal whole genome sequencing that the healthcare system can responsibly pay for?
47:11 Closing remarks
164 episoade
EP 117: Wendy Chung: whole genome newborn screening and other big opportunities in genomic medicine.
MP3•Pagina episodului
Manage episode 394764814 series 2631947
Content provided by Sano Genetics. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Sano Genetics or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ro.player.fm/legal.
Summary:
0:00 Introduction
1:45 Wendy’s early career looking into the genetics of diabetes through mouse models
6:23 A high altitude view: Cutting through hype to spot the next wave of game-changing technology
8:03 The role of policy and communication: how Wendy’s work goes beyond the lab to create real-world impact
11:20 Wendy’s choice to do an MD PhD, and how that impacted her research career
13:50 What we knew about autism and neurodevelopment in the 2010s, and what we know now
13:50 What we knew about autism and neurodevelopment in the 2010s, and what we know now
18:05 The biggest opportunities for the treatment of rare and ultra-rare diseases
25:00 Breakthrough advances in newborn genetic screening, lessons learned from success in Spinal Muscular Atrophy (SMA)
31:29 The GUARDIAN Study: reporting on whole genome sequencing for 250 conditions and the question of cost-effective screening
37:34 Surprising revisions of our understanding of variant pathogenicity and penetrance
40:22 GUARDIAN study: Eight thousand babies from New York City successfully screened
41:33 The percentage of actionable cases arising from broad newborn whole genome screening
43:50 How do we get to universal whole genome sequencing that the healthcare system can responsibly pay for?
47:11 Closing remarks
164 episoade
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