Pediatric Rare Disease Symposium


Welcome to the archival page for the 2024 FSU Pediatric Rare Disease Symposium! Please see the Program Book for the agenda and speaker bios.

This symposium highlighted advances in rare disease research, particularly genomics and gene therapy, featuring national leaders from academia and industry. The program included a keynote, two symposia, and an industry roundtable.

We were honored to have FSU President Richard McCullough, First Lady Jai Vartikar, Vice President for Research Stacey Patterson, Dean Alma Littles, and Florida Representative Adam Anderson, who is a staunch supporter of IPRD, in attendance.

A special ceremony at 10:15 AM in the COM atrium featured Representative Anderson presenting President McCullough with a $5 million check on behalf of State of Florida in support of the IPRD.

KEYNOTE SESSION

  • 0:00 - 3:09 Welcome (FSU College of Medicine Dean Alma B. Littles, M.D.)
     
  • 3:09 - 9:35 Opening Remarks (State Representative Adam Anderson (R-Palm Harbor))
     
  • 9:35 - 20:08 Introductory Remarks (FSU President Richard D. McCullough, Ph.D.)
     
  • 20:08 - 1:04:18 KEYNOTE: Lessons Learned from 30 Years of Clinical Trials with AAV vectors (UMass Chan Medical School Executive Deputy Chancellor and Provost Terence R. Flotte, M.D., University of Massachusetts, Worcester)
     
  • 1:04:18 - 1:17:40 Discussion (President Richard D. McCullough & Terence R. Flotte)

CHECK PRESENTATION CEREMONY

  • 1:17:40 - 1:27:53 Special ceremony featuring Representative Anderson presenting President McCullough with a $5 million check on behalf of State of Florida in support of the IPRD.

SYMPOSIUM 1: RARE DISEASE CENTERS AND PROGRAMS

  • 1:27:53 - 1:29:36 Introduction (FSU IPRD Director Pradeep G. Bhide, Ph.D.)
     
  • 1:29:36 - 1:50:08 Whole genome sequencing and pharmacogenomics in a clinical setting: Lessons from the Baby Manatee Project (David Seo, M.D., Nicklaus Children's Health System, Miami)
     
  • 1:50:08 - 2:15:46 Genetic studies in patients with rare and undiagnosed diseases in Florida (Mustafa Tekin, M.D., University of Miami)
     
  • 2:15:46 - 2:40:33 Establishing a rare disease center: The Collaborative Center for X-Linked Dystonia Parkinsonism (Nutan Sharma, M.D., Ph.D., Massachusetts General Hospital and Harvard Medical School, Boston)
     
  • 2:40:33 - 2:55:20 Discussion and Closing Remarks (IPRD Director Pradeep G. Bhide)

SYMPOSIUM 2: GENOMICS AND GENE THERAPY

  • 2:55:20 - 2:58:12 Introduction (FSU IPRD Associate Director Michelle Arbeitman, Ph.D.)
     
  • 2:58:12 - 3:28:23 Gene therapy and molecular medicine in rare disease: Future Vision (Barry Bryne, M.D., Ph.D., University of Florida)
     
  • 3:28:23 - 3:52:06 Getting beyond one disease at a time: Platform Approaches to Genetic Therapy Clinical Trials (Philip J. (P.J.) Brookes, Ph.D., National Institutes of Health, Rockville, Maryland)
     
  • 3:52:06 - 4:19:18 Genome sequencing and population-based analysis for Mendelian conditions (Greg Barsh, M.D., Ph.D., Stanford University)
     
  • 4:19:18 - 4:25:14 Discussion and Closing Remarks (IPRD Associate Director Michelle Arbeitman)

GENEDX INDUSTRY ROUND TABLE: BIOPHARMA AND RARE DISEASES

  • 4:25:14 - 4:29:23 Introduction (FSU Vice President for Research Stacey Patterson, Ph.D.
     
  • 4:29:23 - 4:42:23 Roundtable Presentation: Paul Kruszka, M.D., MPH, FACMG (GeneDx)
     
  • 4:42:23 - 4:54:36 Roundtable Presentation: Jonathan Hickman, PharmD. (Genentech)
     
  • 4:54:36 - 5:12:12 Roundtable Presentation: Heather Lau, M.D. (Ultragenyx)
     
  • 5:12:12 - 5:32:22 Roundtable Discussion (Paul Kruszka, Jonathan Hickman, & Heather Lau)

One of the highlights from the October 7, Rare Disease Symposium featured Dr. Cesar Rodriguez, M.D., showcasing the Pediatric Rare Disease AI Knowledge Hub to attendees. Watch our video demoing the Knowledge Hub with Clay Ingram, Jimmy Cole, and Emily Pritchard, Ph.D.
 

Knowledge Hub