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 of Human Genetics applies approaches to determine both the risk of disease and any implications for preventive approaches.

Guiding our work is a commitment to leveraging information from the large number of children referred to Children’s Hospital of Philadelphia (CHOP) for evaluation and diagnosis of genetic disorders. With these patients and their families as partners, investigators continue their work to find new genes in which mutations and variations cause diseases, and then develop experimental and innovative approaches to determine the links.

Investigators in the division are engaged in a number of renowned research programs, including:

• 22q and You Center
• Mitochondrial Medicine
• Center for Applied Genomics
• Roberts Individualized Medical Genetics Center (IMGC)
• Center for Cornelia de Lange Syndrome and Related Diagnosis
• Beckwith Wiedemann Syndrome program
• Lysosomal Storage Disease program
• Newborn Metabolic Screening Program
• Williams Syndrome Clinic
• Craniofacial Genetics program
• And more

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 diseases. Our goal is to anticipate and prevent diseases through targeting intervention and prevention strategies.