EP 176: Hunting rare kidney disease mutations with Anthony Bleyer of Wake Forest and Stan Kmoch of Charles University
Episode description
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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