Episode 3: Inside OCNDS Research ft. Drs. Gabrielle Rushing and Elena Bagatelas
BuzzSprout: https://www.buzzsprout.com/2604852/episodes/19467503
YouTube: https://youtu.be/9VhOC9t8SW8
Overview
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, formerly an Intern, then Podcast Manager for the CSNK2A1 Foundation, before transitioning to industry. 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-phenotype research, patient registries, and current research priorities. The researchers highlight that every family’s participation helps move research forward.
Key takeaways:
- Introduction to the CSNK2A1 Foundation’s science team
- How the CSNK2A1 gene, the CK2 protein, and OCNDS are connected
- What genotype-phenotype research can tell us
- Current research priorities and how family participation helps
- Guidance for newly diagnosed families
Episode highlights:
1:00 Meet Chief Scientific Officer, Dr. Gabrielle Rushing, and Dr. Elena Bagatelas
3:26 Untangling the names: CSNK2A1 gene, CK2 protein, and OCNDS
7:30 Dr. Rushing explains genotype and phenotype in plain language and discusses the CSNK2A1 Foundation’s research approach
10:50 How the Simon’s Searchlight registry lets researchers learn from family-reported data over time
18:01 Discussion of “core” OCNDS symptoms shared across different variants, including speech and language delay
20:33 Current research priorities: sleep, speech and language, and anxiety
24:30 Drug repurposing
34:34 Advice for newly diagnosed families: you’re not alone and you can make a difference
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