The Roadmap to Rare

CSNK2A1 Foundation Podcast

This is the Roadmap to Rare. Hosted by OCNDS parent Eric Finn, this podcast explores the reality of the rare-disease journey—sharing hope through real stories, real challenges, and research. This is our rare disease roadmap. Every rare disease journey is different, but no family should have to navigate it alone. On Roadmap to Rare, Eric sits down with parents, advocates, clinicians, researchers, and leaders in the rare disease community to talk about what the path really looks like—from diagnosis to advocacy, research breakthroughs, and everything in between. Together, these conversations shine a light on the experiences that unite the rare disease community: resilience, determination, and hope for the future.

Episodes

  1. 23h ago

    Episode 3: Inside OCNDS Research ft. Drs. Gabrielle Rushing and Elena Bagatelas

    In Episode 3 of Roadmap to Rare, host Eric Finn is joined by Dr. Gabrielle Rushing, Chief Scientific Officer for the CSNK2A1 Foundation, and Dr. Elena Bagatelas. Together, they unpack the science behind Okur-Chung Neurodevelopmental Syndrome (OCNDS), from explaining the functions of the CNSK2A1 gene and the CK2 protein, to talking about the foundation’s genotype (genetic code)-phenotype (physical result) research, patient registries, and current research priorities. The researchers highlight that every family’s participation helps move research forward.  Subscribe so you can stay updated for new episodes! New episodes every two weeks.  Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast Stay Connected: Visit our website: https://www.csnk2a1foundation.org/ Follow us on Instagram: @csnk2a1_foundation Follow us on Facebook: CSNK2A1 Foundation Follow us on LinkedIn: CSNK2A1 Foundation Links & Resources: https://www.simonssearchlight.org/research/what-we-study/csnk2a1/ https://www.csnk2a1foundation.org/simons-searchlight https://www.csnk2a1foundation.org/citizen-health https://www.csnk2a1foundation.org/project-find-out https://www.csnk2a1foundation.org/new-partnership-with-probably-genetic Bagatelas et al., 2025. OCNDS core features are conserved across variants with loop-region mutations driving greater symptom burden: https://pmc.ncbi.nlm.nih.gov/articles/PMC12267189/

About

This is the Roadmap to Rare. Hosted by OCNDS parent Eric Finn, this podcast explores the reality of the rare-disease journey—sharing hope through real stories, real challenges, and research. This is our rare disease roadmap. Every rare disease journey is different, but no family should have to navigate it alone. On Roadmap to Rare, Eric sits down with parents, advocates, clinicians, researchers, and leaders in the rare disease community to talk about what the path really looks like—from diagnosis to advocacy, research breakthroughs, and everything in between. Together, these conversations shine a light on the experiences that unite the rare disease community: resilience, determination, and hope for the future.