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Pediatrics & Genetics

The Division of Pediatric Genetics, Metabolism and Genomic Medicine provides service in the diagnosis, treatment and prevention of birth defects, structural abnormalities, inherited diseases, chromosomal abnormalities and mental retardation. Pediatric genetics also cares for children with biochemical genetic disorders, inborn errors of metabolism, and metabolic defects. Services include an evaluation to identify genetic diseases, chromosomal analysis, amniocentesis for prenatal diagnosis, molecular and DNA diagnostics, genetic counseling and teratologic evaluation of abortuses, stillborns and selected neonatal deaths. Teratological evaluations may be submitted by physicians subject to the consent of the parent.

The Medical Genetics Residency Program, which is based in the Department of Pediatrics, utilizes combined clinical genetics services, basic science research, and education programs of five Medical School departments. The primary goals are Board Certification in Medical Genetics and preparation for a research career in academic genetics. Training leading to Board Certification in Clinical Cytogenetics, Clinical Biochemical Genetics or Clinical Molecular Genetics is also offered. 

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