Rarecast
How One Foundation Is Laying the Groundwork to Advance Treatments for an Ultra-Rare Disease
- Autor: Vários
- Narrador: Vários
- Editora: Podcast
- Duração: 0:26:06
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Sinopse
A week before Deborah Ondrasik’s daughter Gabrielle turned 1, she suffered her first seizure. Within a year, Gabrielle was diagnosed with CACNA1A-related disorder, a rare, neurodegenerative condition. At the time she was the eighth known person to be diagnosed with the disorder. We spoke to Ondrasik, who is a pediatrician, along with CACNA1A Foundation Vice President Sunitha Malepati about the CACNA1A-related disorders, how it progresses, and what the CACNA1A Foundation is doing to advance research to speed the development of treatments and a cure.