“ It’ s real important for us to come to things like this where people do care, because he’ s not just SPATA5L1, he’ s Luca,” Moriah said.“ Being able to meet not only researchers but other families that understand, it is really important. Having a child with a rare disease is really isolating, from the diagnosis to having other parent friends with typical kids is hard, because I get to watch other kids run around and play and Luca doesn’ t do that.
“ Meeting other families and the researchers is helping us feel less alone, knowing there are people who are out there that are researching and advocating for children.”
The momentum for IPRD continues to accelerate.
“ Rep. Anderson has proposed new legislation codifying the institute in statute and seeking funding for the Sunshine Genetics Act, which proposes to build a consortium of Florida academic and health care institutions to perform whole genome sequencing of 10,000 newborns in Florida,” Bhide said.“ The sequencing will be performed here at the IPRD. The goal is not only to offer diagnoses but also promote genomic research in Florida.”
The Sunshine Genetics Act, unanimously approved by the Florida House and Senate, was signed into law by Gov. Ron DeSantis, effective July 1.
In February, Anderson described the then-proposed legislation as“ the next big step” to make Florida a leader in rare disease research.
The Sunshine Genetics Act advances that cause with the establishment of a five-year, state-funded pilot program that allows Florida families to opt-in and have their newborns undergo genetic screening by way of a simple blood sample at birth. Through whole genome sequencing, scientists will be able to identify hundreds of potentially serious genetic conditions, often before symptoms appear, so doctors can begin care.
The Act also creates a consortium which brings together the resources of Florida’ s medical colleges, hospitals, biotech industry and others, and it establishes an oversight board of leaders in those fields. FSU will also receive funding for IPRD’ s research efforts for a third consecutive year.
In short, it’ s a direct response to the needs of children and families impacted by rare diseases, including those in attendance that Anderson addressed at the February Rare Disease Day event.
State Rep. Adam Anderson
“ What we saw today, having so many families here, gives the folks doing the work – the boots on the ground – the opportunity to interact and see the impact they are having on families,” Anderson said.“ I hope that inspires them and it motivates them.”
Anderson’ s push into pediatric rare disease research remains driven by the 2019 loss of his son, Andrew, to Tay-Sachs disease.
“ That’ s my favorite part of working in this field, getting to know these families,” he said.“ I can relate to what they’ re going through and understand firsthand. Every time I see them, it’ s a reminder of why we’ re doing this.”
February’ s event also included a symposium featuring three ongoing IPRD research presentations, comments from Leah Barber from the National Organization of Rare Disorders, and a keynote address from IPRD Associate Director for Precision Medicine David Ledbetter, Ph. D.
A renowned clinical geneticist, Ledbetter was drawn to IPRD after attending the university’ s October 2024 Discovery Days kickoff event – a Pediatric Rare Disease Symposium – at the College of Medicine. There, Anderson
Continued on next page