The Florida Institute for Pediatric Rare Diseases at the Florida State University College of Medicine is increasing its efforts to address rare diseases in children, as Rare Disease Day approaches on February 28. The institute’s initiatives follow the recent enactment of the Sunshine Genetics Act, which was signed into law in July 2025.
This legislation establishes a five-year voluntary genetic sequencing pilot program for newborns and creates the Sunshine Genetics Consortium, bringing together researchers, clinicians, and biotech companies across Florida. The act includes a $3 million investment that allows families to opt in for free whole genome sequencing for their newborns. This positions both Florida State University (FSU) and the state as leaders in pediatric genomic medicine.
On February 27, the institute will host a Rare Disease Day Symposium at FSU’s College of Medicine to present its mission and future projects related to rare disease research.
There are more than 7,000 pediatric rare diseases affecting about 30 million people in the United States, including 15 million children. The Sunshine Genetics Act was championed by Representative Adam Anderson (R-Palm Harbor), who was motivated by his son Andrew’s death from Tay-Sachs disease at age four.
Pradeep Bhide, director of the Florida Institute for Pediatric Rare Diseases, emphasized the importance 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 is often a long diagnostic process for families affected by rare diseases by evaluating nearly all of a child’s genetic information at once. He stated: “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 partnerships with other universities and health systems help ensure advanced diagnostics are available throughout Florida: “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.”
Bhide also noted that many pediatric rare diseases are caused by changes in a single gene: “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 discussed advances 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.”
Statewide coordination is another focus area made possible through legislative support: “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.”
On improving outcomes overall for children affected by rare diseases nationwide—estimated at over 15 million—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.”
He outlined how their programs work: “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 the nation’s most forward-looking pediatric genomics programs. We also collaborate closely with universities, hospitals, foundations, legislators, and advocacy organizations to connect families with clinical trials and support networks. This coordination ensures that families are not navigating rare disease care alone,” he concluded.
