Pediatric Genetics and Metabolism

The Division of Pediatric Genetics and Metabolism is a major resource for clinical genetics in North Texas, as well as a vital part of UT Southwestern Medical Center's programs for training medical students, residents, fellows, and allied health professionals.

Under the direction of Ralph DeBerardinis, M.D., Ph.D., the Division provides services for the major clinical laboratories at UT Southwestern that deal with genetic conditions, including the Molecular Diagnosis, Cytogenetics, and Metabolic Disease laboratories.

Excellence in Patient Care

Our clinics are unique in the region in that we:

  • Are the only clinic that accepts referrals from the Texas Department of Health's newborn screening program for biochemical disorders
  • Are the only clinic in North Texas specializing in the diagnosis and treatment of children with inborn errors of metabolism
  • Are the only multispecialty clinic for patients with Down syndrome in the region
  • Have special interests in the diagnosis and management of a variety of other genetic conditions such as Marfan syndrome, osteogenesis imperfecta, and other disorders of skeletal development

Learn more about the excellence of our patient care.

Leadership in Research

We participate in clinical research studies, including trials of enzyme replacement therapy for lysosomal storage disorders, trials of diet therapy for PKU, studies on the cause of congenital heart disease in children with Down syndrome, and computational analysis of the genetics of congenital heart defects, among others. Learn more about our state-of-the-art research.

Education of Future Leaders

Our Division plays a major role in teaching first-year medical students at UT Southwestern, specifically in the Biochemistry, Genetics, and Embryology courses, and third-year medical students rotate through our outpatient clinics as part of their pediatric rotation. We manage a residency program in Medical Genetics and are an important part of the Pediatric Residency Program. Learn more about our education and training programs.