ONCE UPON A GENE - EPISODE 253- Transforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples

Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari

In this episode, I’m joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares how his dedication to helping children and families has driven him to create a system that collects and preserves valuable CNS samples—residual materials that would otherwise be discarded. We discuss the incredible impact of these efforts on the future of rare disease therapeutics and how families can play an active role in advancing research.

Highlights:

  • Dr. Eskandari’s Path to Pediatric Neurosurgery

  • The Inspiration Behind the Biorepository Project

  • What Are Biorepositories and Why They Matter

  • Advocating for Residual Sample Collection

  • Overcoming Challenges in Setting Up a Biorepository

  • Data Sharing and Expanding Access

  • Scaling This Initiative to Other Institutions

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Links:

Combined Brain

The Medical University of South Carolina

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