In this episode of PeDRA Pearls, Jenn Dawson welcomes back Stefanos Koutsoukos for a deeper conversation about research on rare genetic skin diseases through the lens of both lived experience and bench science. Stefanos shares his family’s diagnostic journey, the evolving terminology surrounding ichthyosis and epidermal differentiation disorders, and how advances in genetics, stem cell models, and patient-reported outcomes are helping shape the future of meaningful therapies. Now a graduate student at the University of Colorado Anschutz, Stefanos is researching rare genetic skin diseases and is a recipient of a 2025 PeDRA Research Fellowship, working under the mentorship of Ganna Bilousova, PhD.This episode is presented by Disc Medicine. Although Disc Medicine provided funding for this PeDRA Pearls Podcast, the contents of the podcast were developed independently by PeDRA. Learn more about Disc Medicine.
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