From Ichthyosis to EDD: A Patient-Researcher’s Journey
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.
Keywords: Patient Advocacy, Epidermal Differentiation Disorder, Ichthyosis, FIRST, Basic Science, Translational Science, Genetics, Stem Cells
Program Guest
We gratefully acknowledge Disc Medicine for their presenting sponsorship of the PeDRA Pearls Podcast.