Welcome to Genetics and Metabolism


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

Services include:

  • Prenatal, child and adult diagnosis, genetic testing, and counseling
  • On-site inpatient consultations for metro-Denver hospital nurseries
  • Specialty clinics for neuromuscular disorders, including Prader-Willi and Angelman Syndromes, skeletal dysplasia, neurofibromatosis, and inborn errors of metabolism
  • Outreach clinics and telehealth services across a seven-state region
  • Nationally-recognized biochemical, cytogenetic, and molecular genetic laboratory services

Inpatient Services

The Genetics and Metabolism Section provides consultative inpatient services at Children's Hospital Colorado and affiliated hospitals, as well as regional outreach programs in genetics in Colorado, Wyoming, and Montana.


Clinics organized and staffed by this Section include the Genetics & Inherited Metabolic Diseases at Children's Hospital Colorado, the Neurocutaneous Clinic and Inherited Metabolic Diseases (IMD) Clinic.

The Section also participates in specialty clinics in neuromuscular disorders, tuberous sclerosis, skeletal dysplasia, growth, ophthalmology, cleft lip and palate, spina bifida, autism, as well as the Bill Daniels Center for Hearing.

To contact our main clinic, please call 720-777-0020 or Fax 720-777-7321.

Medical Student Program

  • Genetics and metabolism is an important component of the pediatric clerkship curriculum for third-year medical students at the University of Colorado School of Medicine. Our faculty provides a lecture in genetics as part of the clerkship's core lecture series.
  • An elective in birth defects/genetics is available for fourth-year medical students who have successfully completed a pediatric clerkship.

Pediatric Residency

Elective rotations in genetics and metabolism are available for residents in all clinical areas.

Residency/Fellowship Program in Genetics

The University of Colorado School of Medicine Department of Pediatrics and Children's Hospital Colorado offers several training programs, including:

The Section of Genetics and Metabolism pursues basic research on numerous inherited conditions. Research involves the identification of the genetic basis of inherited disorders, both rare and common. In several rare genetic diseases, current research delineates the spectrum of mutations and how they can predict outcome. Translational research efforts are bringing these new findings to clinical care through our service laboratories. Mutagenesis studies review the impact of environmental variables on producing genetic changes.

Several of our Section’s large studies involve gene discovery in complex diseases, including various autoimmune diseases and cleft lip and palate, one of the most common birth defects. We have organized VitGene, an international consortium of investigators in multiple countries, and are now performing a very large genome-wide association study of generalized vitiligo (one of the most common autoimmune diseases), which is studying autoimmune thyroid disease in development. We have also carried out an extensive examination of the developmental genetics of facial development in the mouse, with the long-term goal of identifying genes responsible for human facial development that may play important roles in cleft lip and palate.

For select genetic conditions, we are examining the mechanisms by which genetic changes lead to clinical symptoms. This research involves basic scientific concepts, such as mechanisms of neuronal development, and opens the possibility for new therapeutic avenues, which we can then further pursue in translational clinical studies. Efforts are under way to explore conditions as varied as glutaric aciduria type I, homosytinuria due to cystathionine beta-synthase deficiency, nonketotic hyperglycinemia, mitochondrial liver disorders, and Down syndrome. We are performing treatment studies that include the use of stem cell treatment for genetic conditions including Down syndrome.

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. An extensive regional study on the long-term outcome of patients identified through newborn screening is coordinated by our Section.

The Section is also involved in educational research studies on the effectiveness of education in biochemical and clinical genetics for groups of professionals.

Basic Science Research

The Colorado Intellectual and Developmental Disabilities Research Center (IDDRC) aids investigators in our Section in research into mental retardation and related conditions.

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