Research

Medical Genetics Research

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The Division of Medical Genetics at Children’s Hospital of Pittsburgh of UPMC maintains an active basic science and clinical research program. Our research is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.