Empowered Patient Podcast
How Genetic Testing and Real-World Evidence Based Research Shed Light on Ultra-Rare Disease FOXG1 with Nasha Fitter FOXG1 Research Foundation
- Author: Vários
- Narrator: Vários
- Publisher: Podcast
- Duration: 0:19:04
- More information
Informações:
Synopsis
Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using real-world evidence, machine learning, AI, and genetic testing are showing a path to finding a treatment. Nasha explains, "My daughter, Amara, was diagnosed at nine months of age. She began having hundreds of seizures a day. And at that point, there was information known about the FOXG1 gene. It's a really important gene for brain development. But no one was studying the syndrome and how to find a cure for it. So, I and a group of other parents, like-minded parents who, refused to just take that this is the way it is. Our children have this condition, and that's it. We started this foundation." "We've done a lot of work to get the entire world of FOXG1 to work together and then to collect pa