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

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 Podcast00:59 Welcome to Anthony and Stan02:05 The origin story for Anthony and Stan’s long-distance collaboration06:55 Stan’s background in metabolic disorders and sequencing techniques11:09 Common genetic culprits and barriers to identifying mutations that cause kidney disease14:01 Background and findings from Anthony and Stan’s ApoA4 study23:54 Potential therapeutic avenues based on the ApoA4 study26:49 Current and future focuses for characterizing diseases in families30:42 Working with collaborators internationally to access large databases and registries33:05 Innovative transplant methods, including genetically-modified pig kidneys 36:36 Closing remarks and a heartfelt thank you to researchers and families driving rare disease researchFind out more Latest study: https://doi.org/10.1016/j.kint.2023.11.021Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link