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Pediatric Genetics and Metabolism
Faculty and staff within the University of Florida Division of Genetics include pediatric physicians, counselors and nutritionists with expertise in the practice of clinical medicine and in the science of metabolism and molecular genetics. Residents and students studying at all levels of medical education also work with divisional faculty to further their educational goals.
Our clinical and research programs evaluate and treat children with genetic disorders, including inborn errors of metabolism, congenital birth defects and many other rare genetic conditions.
Statewide Programs
- Florida Newborn Metabolic Screening and Follow-up Program
(Every newborn born in Florida is screened for approximately 35 inborn genetic errors)
- Children's Medical Services (CMS) Regional Genetics Program
(Satellite clinics in Daytona, Rockledge, Orlando, Panama City, Pensacola and Tallahassee)
- Infant Hearing Screening Program (CMS)
(Tracking of neonates with presumptive hearing loss)
- Raymond C. Philips Research and Education Unit
(State of Florida-funded Developmental Disabilities program)
Hospital and Clinic Services at Shands Children's Hospital at UF
Consultation for evaluation of children with:
- congenital malformations
- inborn errors of metabolism
- developmental disabilities and mental retardation conditions
- neurogenetic disorders
- chromosome abnormalities
- teratogen exposures
- rare genetic syndromes and other conditions
Genetic counseling, to help families understand:
- risk for recurrence of a genetic condition
- inheritance patterns and expected prognosis for a given genetic condition
- availability of molecular testing and expected outcomes of testing
Special Consultation Programs and Services
- Cardiomyopathy clinic, Gainesville
- Center for Autism and Related Disabilities (CARD), Jacksonville
- Craniofacial clinic, Gainesville
- Cytogenetics Laboratory, Gainesville
- Prader-Willi and Angelman syndromes, Gainesville
- Phenylketonuria (PKU) treatment program, Gainesville
- Telemedicine consultation, Pensacola
Contact information:
Univeristy of Florida Division of Genetics, Department of Pediatrics
1600 SW Archer Rd., M-346
P.O. Box 100296
Gainesville, FL 32610-0296
Office: 352 - 392 - 4104
Fax: 352- 392 - 3051 |