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Welcome to Genetics and Metabolism

The Department of Pediatrics Section of Genetics and Metabolism provides clinical services at Children's Hospital Colorado in Aurora, Colorado.  The Department also offers educational programs and pursues clinical and basic research on numerous conditions. 

Please explore our website for more information, and contact us if you have any questions.


We provide consultative inpatient services at Children's Hospital Colorado and affiliated hospitals and regional outreach programs in Colorado, Wyoming, and Montana.  MORE »

We offer a variety of educational programs including a two-year Fellowship/Residency Program in Genetics at Children's Hospital Colorado.  MORE »

We pursue clinical and basic research on numerous inherited conditions. Translational research efforts are bringing our new findings to clinical care through our service laboratories. MORE »


  • Elaine Spector, PhD, FACMG has recently been elected to the Board of Directors of the American Board of Medical Genetics and Genomics (ABMGG) for a six year term. She will represent the area of Molecular Genetics.
  • We are saddened to announce the death of Karl H. Pfenninger, MD, PhD. Pfenninger was professor of pediatrics and cell and developmental biology. He was also the director of the Intellectual and Developmental Disabilities Research Center. Pfenninger passed away on Jan. 30.
  • Emily Bates, PhD, presented her lecture, "K+ Channels Affect Development: Implications for Down Syndrome" for the Linda Crnic Seminar Series in February 2014.
  • The Colorado Intellectual and Developmental Disabilities Research Center (IDDRC) aids investigators in our Section in research into intellectual disabilities and related conditions.
  • Clinical research in our Section includes studies to describe the clinical spectrum of disorders, such as skeletal dysplasias, and studies on comprehensive care, including new treatments for neurofibromatosis, lysosomal storage disorders, and phenylketonuria.