Genes, Genomics, and Pediatric Disease Affinity Group



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Genetics is a discipline with unique implications for pediatric medicine, and the field impacts all aspects of childhood healthcare. As new technologies have allowed for increasingly precise probing of the genome, the field has undergone tremendous growth. Coming on the heels of the Human Genome Project, the creation of robust methods for defining the entire genetic and epigenetic architecture of an organism or even an individual cell has catalyzed discoveries that are shaping modern pediatric clinical care.

At Children’s Hospital, genetics and genomic research is multifaceted and spans numerous divisions. These research efforts are conducted in the Genes, Genomics, and Pediatric Disease Research Affinity Group, an innovative program established more than a decade ago that focuses on the molecular genetic basis of human disease. Major recent advances include discovering the genetic basis of many human conditions, application of molecular diagnostics in the everyday clinical setting, discovery of the mechanisms by which genetic alterations lead to disease, and a translational genomics program that has led to new therapies in pediatric cancers and other conditions.

Because genomic medicine is by definition multidisciplinary, the Genes, Genomics, and Pediatric Disease Research Affinity Group further enables ongoing collaborative research efforts at Children’s Hospital. It provides a forum for establishing or extending collaborations with colleagues at CHOP, the University of Pennsylvania, and at leading institutions worldwide.