‘Powerhouse’ Lives: A Genetic Counselor’s Journey Through Mitochondrial Disease (GUK1)

Genetic counsellor Matt talks with Devin Shuman, a fellow genetic counsellor and rare-disease patient, about her family’s diagnosis of mitochondrial DNA depletion syndrome, the long diagnostic odyssey from muscle biopsy to a candidate gene discovery, and the realities of genetic testing. Devin discusses the process of a disease causing variant in GUK1 being identified. They also explore how mito affects day-to-day life, the promise and limits of experimental treatments and compassionate access, the strength of the rare-disease community, and the small joys—service dogs, activism, and creative outlets—that sustain people living with rare conditions.

You can listen to ‘Powerhouse’ Lives: A Genetic Counselor’s Journey Through Mitochondrial Disease (GUK1) online on Radio and Podcast. Open the player on this page to stream the available audio.

‘Powerhouse’ Lives: A Genetic Counselor’s Journey Through Mitochondrial Disease (GUK1) is an episode from Demystifying Genetics by Matt Burgess.

This episode is 63:44 long.

This episode was published on Aug 18, 2025.

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