With Rare Disease Day set for February 28, the Florida Institute for Pediatric Rare Diseases at the Florida State University (FSU) College of Medicine is increasing its efforts to address rare pediatric conditions. The institute’s work has gained momentum following the passage of the Sunshine Genetics Act in July 2025.
The Sunshine Genetics Act established a five-year voluntary genetic sequencing pilot program for newborns in Florida and created the Sunshine Genetics Consortium, bringing together researchers, clinicians, and biotech professionals across the state. With $3 million allocated to this initiative, families can choose to have their newborn’s full genetic code sequenced at no cost. This positions FSU and Florida as leaders in pediatric genomic medicine.
To highlight these developments, the Florida Institute for Pediatric Rare Diseases will host a Rare Disease Day Symposium at FSU College of Medicine on February 27. The event aims to share updates on its mission and upcoming projects in this field.
There are more than 7,000 pediatric rare diseases affecting around 30 million people in the United States, including about 15 million children. The Sunshine Genetics Act was advocated by Rep. Adam Anderson (R-Palm Harbor), whose personal experience with his son Andrew’s battle with Tay-Sachs disease influenced his legislative efforts.
Pradeep Bhide, director of the Florida Institute for Pediatric Rare Diseases, commented on the significance of ongoing research: “As we observe Rare Disease Day, the message is one of real momentum and hope,” Bhide said. “Genomics, combined with emerging gene-based therapies and coordinated statewide efforts, offers the strongest promise for transforming outcomes for children living with rare diseases. Our mission remains clear: to combine scientific rigor with compassionate care and to transform what is possible for children living with rare diseases.”
Bhide explained that whole genome sequencing can shorten what he called a “diagnostic odyssey” faced by many families: “Families affected by rare diseases often face years of uncertainty, but whole genome sequencing dramatically shortens this diagnostic odyssey by evaluating nearly all of a child’s genetic information at once. This approach increases diagnostic accuracy, identifies actionable findings earlier and enables more timely and targeted care. A precise genomic diagnosis is often the critical first step. It guides medical management, connects families with appropriate specialists and opens access to national foundations and clinical trials. Each diagnosis also strengthens the scientific foundation needed to develop new therapies and, ultimately, preventive strategies.”
He added that FSU’s programs work together statewide: “At Florida State University, the Florida Institute for Pediatric Rare Diseases and the Sunshine Genetics Pilot Program are working together to deliver these benefits statewide. Our partnerships with Florida’s universities and health systems, our CLIA-CAP certified sequencing laboratory and our translational research programs ensure that Florida’s children receive advanced diagnostics supported by cutting-edge science. Florida’s investment through the Sunshine Genetics Act reflects a strong commitment to providing families with answers, hope and access to the most advanced tools in modern medicine.”
On approaches offering hope for affected families Bhide stated: “Although more than 7,000 pediatric rare diseases exist, many are caused by changes in a single gene. This is why genomics remains the most promising avenue for reducing the diagnostic odyssey and for developing targeted treatments. Advances in whole genome sequencing and computational analysis now allow us to identify the genetic cause of many conditions within days, offering families clarity that previously took years to obtain.”
He described next steps beyond diagnosis: “The next step is to pair diagnosis with intervention. Gene-based therapies, including gene replacement, gene editing and RNA-targeted approaches, offer the potential to correct the underlying cause of disease rather than only managing symptoms. At the Florida Institute for Pediatric Rare Diseases, we are building the scientific and clinical infrastructure required to bring these innovations into practice, supported by our genome sequencing laboratory and our Viral Vector and Genome Editing Core.”
Bhide also emphasized coordination across institutions: “Equally important is statewide coordination. Through the Sunshine Genetics Act, Florida is integrating genomic testing into routine pediatric care, enabling responsible data sharing and accelerating discovery across institutions. This system ensures that families have access to expert guidance, rapid answers and individualized care.”
Discussing FSU’s role improving outcomes Bhide said: “The Florida Institute for Pediatric Rare Diseases was created to improve outcomes for the more than 15 million children in the United States affected by rare diseases. Although each condition is uncommon, families need timely diagnosis, coordinated care and access to emerging therapies. Our institute brings these elements together by integrating clinical services, advanced genomics and translational research.
Through our statewide infrastructure, our genetic counselors, clinicians and sequencing specialists provide rapid, comprehensive diagnostic evaluations in the Precision Pediatrics Clinic and our CLIA-CAP certified whole genome sequencing laboratory. This significantly shortens the time to diagnosis and offers families clear actionable guidance.
Our research programs further strengthen this work by developing disease models identifying therapeutic targets and advancing gene-based treatment strategies. Support from the Sunshine Genetics Act has enabled us to build one of nation’s most forward-looking pediatric genomics programs We also collaborate closely with universities hospitals foundations legislators advocacy organizations connect families clinical trials support networks This coordination ensures that families are not navigating rare disease care alone.”
