<p>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.</p><p><strong>Show Notes: </strong></p><p><strong>0:00 </strong>Intro to The Genetics Podcast</p><p><strong>00:59</strong> Welcome to Anthony and Stan</p><p><strong>02:05</strong> The origin story for Anthony and Stan’s long-distance collaboration</p><p><strong>06:55 </strong>Stan’s background in metabolic disorders and sequencing techniques</p><p><strong>11:09 </strong>Common genetic culprits and barriers to identifying mutations that cause kidney disease</p><p><strong>14:01</strong> Background and findings from Anthony and Stan’s ApoA4 study</p><p><strong>23:54 </strong>Potential therapeutic avenues based on the ApoA4 study</p><p><strong>26:49 </strong>Current and future focuses for characterizing diseases in families</p><p><strong>30:42 </strong>Working with collaborators internationally to access large databases and registries</p><p><strong>33:05</strong> Innovative transplant methods, including genetically-modified pig kidneys</p><p> </p><p><strong>36:36 </strong>Closing remarks and a heartfelt thank you to researchers and families driving rare disease research</p><p><strong>Find out more</strong></p><ul> <li><p>Latest study: <a href="https://doi.org/10.1016/j.kint.2023.11.021"><u>https://doi.org/10.1016/j.kint.2023.11.021</u></a></p></li></ul><p>Please consider rating and reviewing us on your chosen podcast listening platform! </p><p><a href="https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link"><u>https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link</u></a><br></p>

The Genetics Podcast

Sano Genetics

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

FEB 27, 202538 MIN
The Genetics Podcast

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

FEB 27, 202538 MIN

Description

<p>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.</p><p><strong>Show Notes: </strong></p><p><strong>0:00 </strong>Intro to The Genetics Podcast</p><p><strong>00:59</strong> Welcome to Anthony and Stan</p><p><strong>02:05</strong> The origin story for Anthony and Stan’s long-distance collaboration</p><p><strong>06:55 </strong>Stan’s background in metabolic disorders and sequencing techniques</p><p><strong>11:09 </strong>Common genetic culprits and barriers to identifying mutations that cause kidney disease</p><p><strong>14:01</strong> Background and findings from Anthony and Stan’s ApoA4 study</p><p><strong>23:54 </strong>Potential therapeutic avenues based on the ApoA4 study</p><p><strong>26:49 </strong>Current and future focuses for characterizing diseases in families</p><p><strong>30:42 </strong>Working with collaborators internationally to access large databases and registries</p><p><strong>33:05</strong> Innovative transplant methods, including genetically-modified pig kidneys</p><p> </p><p><strong>36:36 </strong>Closing remarks and a heartfelt thank you to researchers and families driving rare disease research</p><p><strong>Find out more</strong></p><ul> <li><p>Latest study: <a href="https://doi.org/10.1016/j.kint.2023.11.021"><u>https://doi.org/10.1016/j.kint.2023.11.021</u></a></p></li></ul><p>Please consider rating and reviewing us on your chosen podcast listening platform! </p><p><a href="https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link"><u>https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link</u></a><br></p>