Division of Human Genetics

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Research in the Division of Human Genetics focuses on identifying and understanding the genetic basis of pediatric disease, discovering the natural history of genetic diseases from birth through childhood and into adulthood, and developing and facilitating novel therapeutic approaches to genetic disease. The Division applies genomic approaches to determine both the risk of disease and any implications for preventive approaches.

Guiding the Division’s work is its commitment to leveraging information from the large number of children referred to Children’s Hospital of Philadelphia for evaluation and diagnosis of genetic disorders. With these patients as partners, investigators continue their work to find new genes in which mutations and genomic variation cause disease and distinctive phenotypes, and then develop experimental approaches to determine the molecular mechanisms that link genotype to phenotype.

Investigators in the Division are engaged in a number of renowned research programs, including the 22q program, the Mitochondrial Medicine Frontier Program, the Center for Applied Genomics, the Roberts Individualized Medical Genetics Center, the Center for Cornelia de Lange syndrome, the Beckwith Wiedemann syndrome program, and the Craniofacial Genetics program, among others. Based on its robust research program, the Division of Human Genetics is at the forefront of developing and testing translational therapeutics for children with genetic disease. Finally, a longer-term vision involves a transition from a “phenotype-first” to a “genotype-first” approach in which genomic data are generated in large numbers of infants and children and used to anticipate and prevent disease through targeted intervention and prevention strategies.