18 FLORIDA STATE UNIVERSITY / COLLEGE OF MEDICINE
Green’ s initial supervisor with the Human Genome Project was Richard Ledbetter, Ph. D., FACMG, who, as IPRD’ s senior associate director for Precision Medicine, extended the invitation leading to Green’ s participation in the Rare Disease Day event.
With an audience including families and children impacted by rare diseases, Green offered hope, thanks to the ever-advancing knowledge of genomic medicine.
“ I can tell you as a physician, we’ re increasingly going to learn about how the blueprint information of the genome provides all sorts of guidance on improving the care,” he said.“ And as we improve the diagnostics for rare genetic diseases, hopefully we’ ll be met with similar opportunities to increase our repertoire of therapeutic options for these patients.”
Green shared two slides that spoke directly to that progress. In 1990, scientific discoveries had identified approximately 61 gene-implicated rare diseases. Through 2025, that number had risen to just over 6,000— out of an estimated 10,000 rare genetic diseases— that had been identified.
“ That is remarkable progress and it has been game-changing for the [ rare disease ] community,” Green said.“ What that means is [ discovery ] is now becoming standard. … Whatever is right now, it’ s baseline. It’ s only going to get better.”
Ledbetter then led the panel discussion, touching on a range of topics with Green, McCullough, Anderson and Sarah South, Ph. D., executive scientific director at Quest Diagnostics. The panelists and audience adjourned to the atrium, where eight IPRD-funded research project posters were on display, continuing discussions that began earlier in the day when Bhide welcomed a small gathering of university leaders, partners from the Florida Legislature and industry colleagues for breakfast.
“ We are here because we believe children and families facing rare diseases deserve answers, access and hope,” Bhide told the group.
One of those on hand was Quest Diagnostics’ Gaurav Malik, vice president for patient service centers and business development, whose company has partnered with IPRD’ s Diagnostic Lab to deliver samples for whole genome sequencing.
Malik said Quest is“ humble and hungry” to be involved in IPRD’ s work in the genetic medicine workspace and pointed out that 95 % of all Floridians are within 20 minutes of a Quest lab, where DNA samples can be collected.
“ This becomes a team sport. No one can do it alone,” Malik said.“ We are committed to this. We’ re on this journey with you every step of the way.”
IPRD’ s Cindy Vied, Ph. D., director of the Diagnostic Lab, said she anticipated taking delivery of the first genetic samples for sequencing in the coming weeks.
The days’ events concluded with IPRD officials and supporters visiting with families and children facing rare diseases at a private luncheon.
“ Rare diseases test the very foundations of our healthcare system,” College of Medicine Dean Alma Littles, M. D., said.“ At Florida State University and through FSU Health, we are committed to building an integrated model that connects research, clinical care, education and community partnerships that serves children and families.
“ The Florida Institute for Pediatric Rare Diseases represents that commitment in action.”
Photo( left): Dr. Eric Green, just weeks into his role as chief medical officer at Illumina, delivered a keynote address that carried the audience from his days with the transformative Human Genome Project through his three decades with the National Human Genome Research Institute at NIH. Photo( right): Quest Diagnostics’ Vice President Gaurav Malik, whose company has partnered with IPRD’ s Diagnostic Lab, told a private breakfast audience that his company is“ on this journey with you every step of the way.”