February 23, 2021

Stefanos Koutsoukos on Rare Disease as a Patient, Scientist, and Advocate

50 minutes

I am so grateful to have met Stefanos Koutsoukos on Clubhouse, where we were able to extend our relationship beyond. He shares incredible perspectives on rare disease as a patient, scientist, and advocate. I think that this episode of Folds & Curves tells a comprehensive story, covering topics like:

the diagnostic odyssey: what it's like for rare disease patients and families to reach a diagnosis,

patient rights surrounding their genetic data,

the genetics and biochemistry of ASPRV1-mediated ichthyosis, and

gene therapy approaches to rare disease

I hope that you all enjoy 🙂 . Please check out this incredible Medium post written by Stefanos describing his diagnostic odyssey: https://medium.com/@stefanoskoutsoukos/finding-ithaca-after-our-98-year-diagnostic-odyssey-7b249dad375d

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