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 106: The Colliding World of Rare and Common Disease Genetics with Caroline Wright, Professor of Genomic Medicine at Exeter University
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Manage episode 375755858 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://player.fm/legal.
In this episode, Patrick welcomes Caroline Wright, a leading expert in genomic medicine and Professor of Genomic Medicine at Exeter University. Listen in as they delve into the world of rare diseases, discussing the challenges in diagnosis, uses of population cohorts and, the potential of newborn screening. Caroline shares her excitement about new technologies in genomics and emphasises the importance of data sharing. Discover the significance of genetic variants and the need for cautious interpretation.
Timestamps:
00:48 - An overview of Caroline’s major projects and challenges
02:32 - Deciphering developmental disorders (DDD)
05:24 - The challenges in missense variants and in silico protein structure analysis
07:25 - Impact of missed coding regions on rare disease diagnosis
10:01 - The dual challenge of increasing sample size and searching the entire genome
11:42 - Explaining ascertainment bias
15:02 - The challenge of building phenotypic databases
16:46 - Promising cohort studies for ultra-rare diseases
18:13 - Opportunities in newborn screening
20:16 - Handling incidental findings
21:22 - Caroline’s journey into genomics
24:06 - Caroline’s take on AlphaFold and other protein folding models
25:39 - Promising technologies on the horizon
26:59 - What can the rare disease world learn from the common disease world?
29:09 - Closing remarks
167 episodes
MP3•Episode home
Manage episode 375755858 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://player.fm/legal.
In this episode, Patrick welcomes Caroline Wright, a leading expert in genomic medicine and Professor of Genomic Medicine at Exeter University. Listen in as they delve into the world of rare diseases, discussing the challenges in diagnosis, uses of population cohorts and, the potential of newborn screening. Caroline shares her excitement about new technologies in genomics and emphasises the importance of data sharing. Discover the significance of genetic variants and the need for cautious interpretation.
Timestamps:
00:48 - An overview of Caroline’s major projects and challenges
02:32 - Deciphering developmental disorders (DDD)
05:24 - The challenges in missense variants and in silico protein structure analysis
07:25 - Impact of missed coding regions on rare disease diagnosis
10:01 - The dual challenge of increasing sample size and searching the entire genome
11:42 - Explaining ascertainment bias
15:02 - The challenge of building phenotypic databases
16:46 - Promising cohort studies for ultra-rare diseases
18:13 - Opportunities in newborn screening
20:16 - Handling incidental findings
21:22 - Caroline’s journey into genomics
24:06 - Caroline’s take on AlphaFold and other protein folding models
25:39 - Promising technologies on the horizon
26:59 - What can the rare disease world learn from the common disease world?
29:09 - Closing remarks
167 episodes
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