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S2 Ep3: TANGO2

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Archived series ("Inactive feed" status)

When? This feed was archived on February 10, 2023 22:43 (1y ago). Last successful fetch was on December 13, 2022 13:54 (1+ y ago)

Why? Inactive feed status. Our servers were unable to retrieve a valid podcast feed for a sustained period.

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Manage episode 326864686 series 2975224
Content provided by Audioboom and Rare Disease Report. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Audioboom and Rare Disease Report or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://player.fm/legal.
In this hallmark episode, we discuss a condition that has only been documented in 70 cases worldwide. Dr. Amelle Shilligton is a clinical geneticist at Cincinnati Children's Hospital Medical Center. In this conversation, Ashley and Jacob Wiley share the story of how they rushed their 15 month old daughter Aislynn to that hospital, and Dr. Shillington explains how she eventually solved the mystery of Aislynn's diagnosis of TANGO2-related metabolic encephalopathy and arrhythmias. The rare genetic disorder is caused by variants in the TANGO2 gene and those with it can experience episodes of acute illness called metabolic crises.
  continue reading

15 episodes

Artwork
iconShare
 

Archived series ("Inactive feed" status)

When? This feed was archived on February 10, 2023 22:43 (1y ago). Last successful fetch was on December 13, 2022 13:54 (1+ y ago)

Why? Inactive feed status. Our servers were unable to retrieve a valid podcast feed for a sustained period.

What now? You might be able to find a more up-to-date version using the search function. This series will no longer be checked for updates. If you believe this to be in error, please check if the publisher's feed link below is valid and contact support to request the feed be restored or if you have any other concerns about this.

Manage episode 326864686 series 2975224
Content provided by Audioboom and Rare Disease Report. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Audioboom and Rare Disease Report or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://player.fm/legal.
In this hallmark episode, we discuss a condition that has only been documented in 70 cases worldwide. Dr. Amelle Shilligton is a clinical geneticist at Cincinnati Children's Hospital Medical Center. In this conversation, Ashley and Jacob Wiley share the story of how they rushed their 15 month old daughter Aislynn to that hospital, and Dr. Shillington explains how she eventually solved the mystery of Aislynn's diagnosis of TANGO2-related metabolic encephalopathy and arrhythmias. The rare genetic disorder is caused by variants in the TANGO2 gene and those with it can experience episodes of acute illness called metabolic crises.
  continue reading

15 episodes

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