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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.

 

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



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



ResearchRESEARCH
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 »

HIGHLIGHTS & NEWS

  • James Weisfeld‑Adams, MBChB, wrote about his multiple sclerosis diagnosis in the August 24, 2016 New England Journal of Medicine. The article, titled, "The Abyss", examines a patient’s perspective from a physician’s point of view.
  • Curtis Coughlin, MS, MBehas been selected by the Society for Inherited Metabolic Disorders (SIMD) program committee as the winner of the 2015 Shapira award for best article, "Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome."
  • Elaine Spector, PhD, FACMG has been elected to the Board of Directors of the American Board of Medical Genetics and Genomics (ABMGG) for a six year term.
  • 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.