This week on The Genetics Podcast, we’re celebrating Rare Disease Day with a very special episode. Patrick is joined by clinical nephrologist Anthony Bleyer and geneticist Stan Kmoch to discuss how their decade-long international collaboration has uncovered genetic mutations in families with rare inherited kidney diseases – including Patrick’s.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Anthony and Stan
02:05 The origin story for Anthony and Stan’s long-distance collaboration
06:55 Stan’s background in metabolic disorders and sequencing techniques
11:09 Common genetic culprits and barriers to identifying mutations that cause kidney disease
14:01 Background and findings from Anthony and Stan’s ApoA4 study
23:54 Potential therapeutic avenues based on the ApoA4 study
26:49 Current and future focuses for characterizing diseases in families
30:42 Working with collaborators internationally to access large databases and registries
33:05 Innovative transplant methods, including genetically-modified pig kidneys
36:36 Closing remarks and a heartfelt thank you to researchers and families driving rare disease research
Find out more
Latest study: https://doi.org/10.1016/j.kint.2023.11.021
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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