Welcome to the archival page for Rare Disease Day 2025! Please see the Program Book for the agenda and speaker bios.
In recognition of Rare Disease Day, a global observance dedicated to raising awareness and advocating for individuals affected by rare diseases, the College of Medicine's Institute for Pediatric Rare Diseases (IPRD) hosted a news conference and research symposium.
The event began with a news conference including FSU President Richard McCullough, Florida Rep. Adam Anderson, FSU College of Medicine Dean Alma Littles, M.D., members of the FSU Board of Trustees and other university leaders. It was followed by a research symposium featuring newly-appointed IPRD Associate Director David Ledbetter, Ph.D., FACMG, and IPRD scientists Akash Gunjan, Ph.D., Yi Zhou, Ph.D., and Emily Shiel who presented their latest findings. The symposium provided an opportunity for researchers, clinicians and the broader community to engage in discussions regarding innovations in pediatric rare disease diagnosis and treatment.
0:00 - 4:38: Symposium Introduction with Associate Director Michelle Arbeitman, Ph.D.
4:39 - 15:34: Akash Gunjan, Ph.D., "Developing Effective Therapies for Fatal Childhood Brain Cancers"
15:35 - 25:24: Q&A with Akash Gunjan, Ph.D.
25:25 - 41:04: Yi Zhou, Ph.D., "Studying Developmental and Epileptic Encephalopathy Using YWHAG Mutation Models"
41:05 - 49:50: Emily Shiel, "Myeloperoxidase Activity in Arrhythmogenic Cardiomyopathy: A New Target"
49:51 - 58:57: Q&A with Emily Shiel
58:58 - 1:13:50: Leah Barber, Director of Grassroots Activity, National Organization for Rare Disorders (NORD)
1:13:51 - 1:52:09: David Ledbetter, Ph.D., FACMG, "Precision Medicine Approach for Pediatric Rare Genetic Diseases"
1:52:10 - 2:00:08: Q&A with David Ledbetter
2:00:09 - 2:05:52: Closing Statements with Representative Adam Anderson
