College of Medicine

The newly created Institute for Pediatric Rare Diseases (IPRD) positions the Florida State University College of Medicine to have a transformative impact while offering hope to children and their families searching for answers.

"The goals are big, very bold and courageous,” said IPRD Director Pradeep Bhide, Ph.D., the College of Medicine’s Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience.

Florida Rep. Adam Anderson (R-Palm Harbor) publicly announced the institute’s launch on Feb. 1 during Florida State University Day at the Capitol, along with a $1 million grant for initial funding. In June, Florida Gov. Ron DeSantis (R) approved an additional $5 million for the institute from the state budget.

Anderson, an FSU alumnus, initially approached university leaders with the idea of starting the institute in 2023. His advocacy on behalf of the 350 million people worldwide with known rare diseases, including 30 million in the United States — half of whom are children — has a personal connection.

Anderson and his wife Brianne’s son, Andrew, was diagnosed with Tay-Sachs disease in 2016 and died in 2019. The rare and fatal genetic disorder causes nerve damage in a child’s brain and spinal cord. According to National Institutes of Health data, it affects 1 in every 320,000 babies born in the US.

Tay-Sachs is one of approximately 7,000 known rare diseases.

“In many ways, he (Anderson) is the engine that is driving this,” said Bhide, who developed a five-year plan for the institute that is broad in scope, lending itself to interdisciplinary contributions throughout the university and beyond.

FSU President Richard McCullough, Provost Jim Clark and Vice President for Research Stacey Patterson have thrown their full support behind the institute, which through the use of the initial seed money — and the promise of more to come thanks to the backing of Gov. Ron DeSantis and the legislature — is already funding 13 projects. Those projects include research being conducted by FSU’s College of Arts & Sciences and the FAMU-FSU College of Engineering, in addition to the College of Medicine.
 

“We have met many times … where we’ve said we want to do this and they’ve said, ‘Ok, what do you need?’” Bhide said of the university administration. “There’s a lot of excitement, because (IPRD) fits with the FSU Health goals.”

That support included $2.5 million in matching funds, a portion of which Bhide said has been invested in the purchase of a new DNA sequencer with a price tag of more than $1 million. The sequencer is essential for genetic research. Bhide said the balance of those funds will be used to build a genomics diagnostic facility, where the storage of genetic material and testing will take place. The genomics lab is one of four components of the institute.

A master’s program in genetic counseling, biomedical research and a pediatric clinic comprise the remaining components, collectively bringing together scientists, educators and clinicians.

“The translational research performed at the institute will be the critical first step in breakthrough medical advances, where today’s research becomes tomorrow’s cures,” said College of Medicine Interim Dean, Alma Littles, M.D. “Current and new College of Medicine researchers, doctoral and post-doctoral researchers, geneticists, pediatricians and other clinicians, will further enhance an already-strong interdisciplinary research culture.

“It will also provide a new avenue of research and clinical opportunities for our students as they refine their scientific and clinical interests.”

College of Medicine Professor Michelle Arbeitman, Ph.D., is leading the genetic counseling program and Associate in Research Cynthia Vied, Ph.D., heads up the genomics lab; Littles and Bhide are working together on the pediatrics health center. A committee that includes Vied, Arbeitman, Bhide and Richard Nowakowski, Ph.D., oversee biomedical research, which makes project funding decisions.

“Everybody is expecting big things from this,” Bhide said. “We have to deliver. We need a lot of resources.”

The needed resources were bolstered on June 13 when Florida Gov. Ron DeSantis signed the state budget for Fiscal Year 2024-25, which included an additional $5 million in non-recurring funds for the IPRD. Those dollars will support a laboratory for newborn genetic screening and biomedical research.

Still, one of the challenges in the ongoing build-out of the institute is filling important positions within each of its four components. 

“The immediate challenge I see is recruiting top geneticists,” Bhide said. “We have to build from scratch, and we need human genetics people to go in the direction we want to go.”

Starting a new program with access to a population base that spans the College of Medicine’s reach through its six regional campuses and three rural sites are potential draws for geneticists.

Bhide, who joined the College of Medicine in 2011 following 23 years at Harvard Medical School and Massachusetts General Hospital, has a wealth of connections. He has already connected with former colleagues in Boston, including some familiar with Anderson as he was seeking care for his son.

Additional genetic counselors are needed, at least some of whom would have teaching responsibilities within the College of Medicine. The final piece, and a pivotal one, would be staffing a pediatric health center with physicians and support personnel. 

Getting the pediatric health center up and running is important on several levels, perhaps most notably because 80% of rare diseases start in pediatrics according to Bhide.

“On average a rare disease patient has seen five physicians — so on average, three to four missed diagnoses — and the only accurate diagnosis is through genetic testing . . . Representative Anderson’s goal is that the parents have that option to have whole genome screening soon after birth, so you don’t wait until the symptoms develop. You already know, “Bhide said. “With some of these genes, if you have that mutation you will get that disease, so you are forewarned and you can already begin to develop ways to manage that disease.”

Of course, the goal is finding cures for rare diseases, which require acquiring tissue samples used to further research and testing.

The interdependence among each of the institute’s four components is unmistakable. The genomics lab, which will house a biobank, requires tissue samples for research, which in turn, requires patients who will be working with genetic counselors.

Challenges aside, the College of Medicine’s mission-driven and community-based medical training may provide some built-in advantages to aid in the institute’s success.

“As a medical school intentionally focused on the needs of the community along with its educational, clinical and research missions, the College of Medicine is uniquely positioned to provide a statewide reach to the work that will be done at this institute,” Littles said. “Our medical and PA students receive their clinical experiences at one of six regional campuses and rural sites positioned throughout the state, and under the direction of more than 3,000 clinical faculty members. They are interacting directly with many patients throughout their required rotations. 

“Exposure to large numbers of patients provides greater opportunity to identify those rarities addressed in the institute. And with significant portions of our programs taking place in rural and other underserved communities, we will be able to reach those populations as well.”

Taking advantage of its newfound position at the forefront of pediatric rare disease research, FSU will kick off its second annual Discovery Days celebration on Oct. 7 with a focus on the institute and its work. Bhide has helped secure a gene therapy expert from the University of Massachusetts as the keynote speaker, along with other nationally recognized experts in the field to participate in a symposium. 

In addition, Anderson is hoping to coordinate the annual meeting of the state-appointed 22-member Rare Disease Advisory Council to coincide with the event, further shining a light on the university and the institute.

As a scientist and faculty member, Bhide recognizes the rare opportunity at hand “with an institute that truly has the potential to change the lives of children and their families.”

“We have the responsibility of not only delivering patient care, but also training the next generation of physician scientists,” he said. “What we’re doing here is really with that in mind, not merely addressing today’s problems, but building something that would train scientists and physicians for many years to come. It will have a significant impact.”
 

Contact Bob Thomas at robert.thomas@med.fsu.edu


Photo top right: Florida Rep. Adam Anderson (center) is flanked for IPRD Director, Pradeep Bhide, Ph.D. and College of Medicine Interim Dean, Alma Littles, M.D.  (Photo by Deirdre McCarthy)