The Division of Genetic and Genomic Medicine provides state-of-the-art medical genetics services, as well as generate new information and rapidly incorporate that information into care for children and adults impacted by genetic conditions.
The Division consists of five tenure-track faculty members who play highly visible roles in national and international academic societies and government advisory panels. They lead disease-oriented research programs and participate in graduate-level education within the University of Pittsburgh School of Medicine and Graduate School of Public Health. The Division has acquired $10M in external funding annually.
In addition, the Genetic and Genomic Medicine team is devoted to the provision of medical genetic diagnostic and counseling services. The staff in the Division of Genetic and Genomic Medicine include a wide range of expertise and special interests from the physicians, genetic counselors, dietitians, study coordinators, and regulatory staff, which provide not only strong clinical care, but also basic scientific research that translates into clinical studies.
Members of the division serve as consultants, manage inpatients with inborn errors of metabolism, and provide diagnostic and counseling services to additional Children’s Hospital genetic disease clinics, including neurofibromatosis, cleft lip and palate, cystic fibrosis, and fragile X clinics, as well as to providers throughout Western Pennsylvania, eastern Ohio, western Maryland, and northern West Virginia. The clinics for inborn errors of metabolism, lysosomal storage disease, mitochondrial disease, and PKU provide care for patients with chronic, rare metabolic disorders and function as the follow-up center for Pennsylvania’s state-mandated newborn screening. The division’s physicians provide genetic services for the Hereditary Telangiectasia Center of Excellence at UPMC and are active in the newly constituted Center for Rare Disease Therapy at Children’s Hospital.
- Provide state-of-the-art diagnostic evaluations, testing, and genetic counseling for children and adults with genetic, teratogenic, and metabolic conditions at UPMC Children's Hospital of Pittsburgh and throughout the entire UPMC health system
- Provide or recommend therapeutic interventions to maximize clinical outcomes for each person affected with these conditions
- Provide excellence in teaching
- Advance knowledge in genetics and metabolism through ongoing research and collaborations