FSU Health Precision Pediatrics at IPRD uses a genome-first approach to help identify the underlying cause of children’s complex medical conditions, including developmental disabilities to advance a core mission of IPRD. This innovative model will shorten the typical “diagnostic odyssey” for children with rare genetic diseases and provide parents with useful prognostic information regarding their child’s expected developmental trajectories, learning needs and potential challenges, future medical risks (co-morbidities), as well as accurate genetic counseling information regarding recurrence risks for families.

FSU Health Precision Pediatrics at IPRD’s current focus, which is expanding, is common neurodevelopmental disabilities, including global developmental delay (GDD), intellectual disability, autism spectrum disorder, epilepsy and cerebral palsy. In addition, undiagnosed children with complex medical conditions (e.g., birth defects, bone or hear conditions, multiple organ system involvement, etc.) will be seen for genetic testing to help identify the “root cause” of the child’s problems.