“When I was in medical school, no one had even heard of mitochondrial disease. Today, every student who graduates here knows what it is and has seen a patient with it,” says Dr. Mary Kay Koenig, director of the Center for the Treatment of Pediatric Neurodegenerative Disease at UTHealth Houston McGovern Medical School. That remarkable change in awareness has been accompanied by advances in genetic sequencing, the development of clinical guidelines, and the emergence of potential treatments in some forms of mitochondrial disease. In fact, Dr. Koenig’s multidisciplinary team at UTHealth’s Mitochondrial Center of Excellence has been a key player in clinical trials that may yield the first FDA-approved treatments for it. As you’ll learn in this Year of the Zebra conversation with host Michael Carrese, her work in neurodegenerative diseases also includes tuberous sclerosis, where advanced therapies have replaced the need for repeated surgeries, and Leigh Syndrome, which has seen improvements in diagnoses and supportive therapies leading to better quality of life for patients. Tune in as Dr. Koenig reflects on an era of progress in the space, the rewards of balancing research, teaching and patient care, and the need for more clinicians to center listening, humility and honesty in their approach to caring for rare disease patients and their families.

Mentioned in this episode:

Center for the Treatment of Pediatric Neurodegenerative Disease

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#17 - Waarom kokhals je van vies eten? (S05)