Florida Institute for Pediatric Rare Diseases and A.J. Anderson Foundation expand efforts to improve genetic screening and rare disease care for children
Tallahassee, Florida – A child may miss developmental milestones. Unexplained symptoms begin to appear. Medical appointments multiply. Specialists are consulted. Tests are ordered. Yet answers remain elusive.
What follows is often described by healthcare professionals as a “diagnostic odyssey”—a lengthy and emotionally draining search to identify the cause of a child’s medical condition. For families living through it, the uncertainty can be overwhelming. Valuable time may pass before an accurate diagnosis is made, delaying access to treatments and support services that could improve outcomes.
The Florida Institute for Pediatric Rare Disease (Florida IPRD) at the Florida State University College of Medicine is working to change that reality.
Through a growing portfolio of initiatives that includes newborn whole-genome sequencing, family counseling services, care management programs, research projects and professional training opportunities, the institute is helping bring advanced genetic medicine closer to families who need it most. At the same time, researchers and clinicians are seeking new ways to identify rare diseases earlier and connect patients with treatment before symptoms become severe.
Supported by the Florida Legislature, Florida IPRD has emerged as a central part of the state’s effort to expand access to genomic medicine while accelerating discoveries in pediatric rare disease research. A key partner in that mission is the A.J. Anderson Foundation, an organization created from one family’s personal experience with a devastating diagnosis.
The foundation was established in 2018 by Florida State Representative Adam Anderson and his wife, Brianne Anderson, after their son Andrew was diagnosed with Tay-Sachs disease. The rare inherited disorder progressively destroys nerve cells in the brain and spinal cord. Like many families confronting a rare disease, the Andersons faced a difficult journey while searching for answers and specialized care.
Rather than allowing that experience to define them, they transformed it into a broader effort aimed at helping other families facing similar challenges. Since its creation, the A.J. Anderson Foundation has focused on increasing access to genetic testing while advocating for expanded research and treatment options for pediatric rare diseases.
That shared commitment has helped strengthen collaboration between the foundation and Florida IPRD.
“The partnership between the A.J. Anderson Foundation and the Florida Institute for Pediatric Rare Diseases demonstrates what can be accomplished when advocacy, science, medicine, industry and public policy come together to accelerate diagnosis, expand treatment opportunities, and improve outcomes for children with rare diseases,” said Pradeep Bhide, director of Florida IPRD. “Representative Anderson and Brianne Anderson have been extraordinary champions for children with rare diseases, and their leadership has helped create programs such as ours that are positioning Florida as a national leader in genomic medicine and early diagnosis.”
Those efforts were highlighted this week during a rare disease conference held in Pinellas County and cohosted by the A.J. Anderson Foundation and Florida IPRD.
The gathering brought together an unusually broad mix of participants, including researchers, physicians, healthcare providers, biotechnology representatives, industry leaders and families affected by rare diseases. While the event served as a forum for discussing current advancements, it also focused on what many believe is the next frontier of pediatric medicine—identifying genetic conditions at birth and treating them before symptoms appear.
Delivering the keynote address was Dr. David Bick, principal clinician for the Newborn Genomes Programme at Genomics England. His presentation examined the growing role of genomic screening and the potential for large-scale sequencing programs to improve patient outcomes through earlier diagnosis.
Conference attendees also participated in two expert panel discussions.
The first explored genomic newborn screening and featured representatives from GeneDx, Nest Genomics, Alexion Pharmaceuticals and Amazon Web Services. The second focused on advancements in gene therapy and included specialists from UMass Chan Medical School, Florida IPRD and the University of Florida.
Although the topics varied, both panels centered on a common objective: finding rare diseases sooner and creating pathways to treatment before irreversible damage occurs.
“The promise that these gene and cell therapies offer is that if you can detect a condition at birth, before symptoms occur, you can prevent those symptoms from ever showing themselves, and that child can live a perfectly healthy life,” Anderson said.
That vision received significant support last year through the passage of the Sunshine Genetics Act.
Backed by the Florida Legislature and signed with support from Gov. Ron DeSantis, the legislation established the Florida Institute for Pediatric Rare Diseases and provided funding for both research efforts and a newborn genetic screening pilot program. The initiative represents a major investment in precision medicine and reflects a growing recognition of the importance of early detection in rare disease care.
Supporters believe the long-term impact could extend far beyond Florida. Every new diagnosis made earlier, every treatment delivered sooner and every research breakthrough achieved has the potential to improve lives not only within the state but also for families around the world affected by rare conditions.
For Florida State University College of Medicine Dean Dr. Alma Littles, the initiative reflects both a scientific and humanitarian mission.
“Rare diseases test our healthcare systems, our scientific capabilities and our collective compassion. At the same time, they inspire determination, collaboration and hope,” said Dr. Alma Littles, dean of the FSU College of Medicine. “At Florida State University, we are proud to support the Florida Institute for Pediatric Rare Diseases and the Sunshine Genetics initiative as part of our broader commitment to expanding precision medicine, expanding access to care, and bringing together clinicians, scientists, educators, policymakers, industry leaders and patient advocates around a shared mission.”
As genomic technology continues to evolve, leaders involved in the initiative believe earlier diagnosis, more targeted treatments and stronger collaboration among researchers, healthcare providers and advocates can fundamentally reshape the future of rare disease care.
For families still searching for answers, that future cannot arrive soon enough.
