Division of Medical Genetics

Mission

The mission of the Division of Medical Genetics is:

  • To provide state-of-the-art diagnostic evaluations, testing, and genetic counseling for children and families with genetic, teratogenic, metabolic, and dysmorphic conditions at UPMC Children's Hospital of Pittsburgh and throughout the entire UPMC health system
  • To provide or recommend therapeutic interventions to maximize clinical outcomes for each child
  • To provide excellence in teaching
  • To advance knowledge in pediatric genetics and metabolism through ongoing research and collaborations

Overview of the Division

The division’s goal is to provide state-of-the-art medical genetics services, as well as to generate new information and rapidly incorporate that information into care for children. Basic and clinical research is an intrinsic goal of the division. Faculty members are internationally recognized and play highly visible roles in national and international academic societies and government advisory panels. They participate in graduate-level education within the University of Pittsburgh’s School of Medicine and Graduate School of Public Health. The division integrates genetic counseling duties with counselors based in the Division of Laboratory Medicine and the Center for Rare Disease Therapy. In addition to basic and clinical research, the Medical Genetics team is devoted to the provision of medical genetic diagnostic and counseling services. In 2017, the Division of Medical Genetics clinical team consisted of 10 MDs, nine clinical genetic counselors, two metabolic dieticians, three clinical nurses, two research nurses, and three genetic counselors dedicated to special projects. Three additional tenure-track and four non-tenure-track research faculty provide a strong basic science foundation. 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, 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.

In 2017, the Neurodevelopmental Research Program joined the division, bringing an expanded focus on neurodegenerative disorders. The physicians utilize a team approach to evaluate children thought to have metabolic disorders as well as congenital anomalies, teratogenic disorders, and/or genetic disorders, and they strive to engage patients and families with necessary support and specialists to optimize clinical and emotional outcomes. Families are provided with state-of-the-art laboratory diagnostic testing. Genetic counseling is provided to optimize the outcomes of children, to provide information to help parents make individualized decisions for family planning, and to initiate support from the community. The division strives to provide realistic hope to families and to provide services in a compassionate and empathetic manner.