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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