FSUCOM_AnnualReportFY2025-V4_Print | Page 39

2025 ANNUAL REPORT / FLORIDA INSTITUTE FOR PEDIATRIC RARE DISEASES 39
“ I had an attending once tell me,‘ You know, any child at any time can become special needs, you know,’ and I’ ve seen that,” Pepper said.
As a compassionate pediatrician with leadership skills who is also a Tallahassee native with TMH connections, Pepper checked all of the boxes to lead IPRD’ s clinical piece.
“ We need to keep these kids here [ in Tallahassee ],” Pepper said.“ They’ re our families; our responsibility. We are a huge region. It’ s overdue for us to have comprehensive medical care here for pediatrics.”
Doing just that was bolstered by the addition of Boris Kantor, Ph. D., as director of the Viral Vector and Genome Editing Core facility. With decades of experience in viral vector design, production and gene editing, he joined IPRD from Duke University. Bhide called it“ a major step forward in our mission to accelerate breakthroughs in rare disease research and precision medicine.”
Building the IPRD Infrastructure
While the brick-and-mortar needs of IPRD will continue to grow, progress is being made.
• IPRD’ s Diagnostics Lab, where whole genome sequencing will take place, is located in the college’ s Biomedical Sciences wing. Its Clinical Laboratory Improvement Amendments-certified, more commonly known as CLIA-certified, which means it meets federal standards to ensure the accuracy and reliability of patient test results for diagnosis and treatment. It will begin processing clinical diagnostic samples in early
2026. Only then will it be eligible for the highest level of accreditation from the College of American Pathologists( CAP).
The lab’ s NovaSeq X, purchased by the university for IPRD in 2024, can sequence the entire genome of 128 patients from DNA samples in 48 hours. It will yield results by identifying genetic abnormalities and assist in confirming the diagnosis of previously undiagnosed conditions, which can end the wait commonly known as a patient’ s diagnostic odyssey. Patients with rare diseases often endure years of testing before gaining a diagnosis. This information can allow clinicians to establish treatment planning at an earlier stage, which is critical to care.
Photo: From left, Dorothea Lantz, FSU President Richard McCullough, Florida Rep. Adam Anderson, College of Medicine Dean Alma Littles and IPRD Executive Director Pradeep Bhide, pose with ceremonial checks during a press conference announcing the launch of the Sunshine Genetics Act.
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