Janet Thomas

A woman in a floral shirt standing in front of a white wall.

Janet A. Thomas, M.D.

Medical Advisor

Professor, University of Colorado School of Medicine, Department of Pediatrics, Section of Clinical Genetics and Metabolism.  Board certified Clinical Genetics and Clinical Biochemical Genetics.

Born and raised in Iowa, Dr. Thomas attended Loras College in Dubuque, Iowa for an undergraduate degree in biology before attending the University of Iowa College of Medicine.  She did her pediatric training at the University of Arizona Health Sciences Center and then completed her genetics training at the University of Colorado School of Medicine.  Subsequently, she joined the faculty of the University of Colorado School of Medicine in 1996 and has since remained there as an active member of the Department of Pediatrics, Section of Clinical Genetics and Metabolism.

Dr. Thomas has devoted most of her time to caring for individuals of all ages with inborn errors of metabolism in the Rocky Mountain region.  She has a particular interest in lysosomal storage disorders (especially the MPS disorders), phenylketonuria, newborn screening, and regional care.  She is a faculty member of the UCDHSC Human Medical Genetics Program and a member of the State of Colorado Newborn Screening Program Stakeholders Committee.  In addition, she is the Co-Program Director for the Mountain States Regional Genetics Network, an organization focused on regional and national delivery of genetic services including underserved populations, telegenetics, consumer advocacy and resources, and health care policy.  Past positions have included Interim Section Head of the Section of Clinical Genetics and Metabolism, the Director of the Inherited Metabolic Diseases Clinic at Children’s Hospital Colorado, and Director of the University of Colorado Medical Genetics Residency Program.  Teaching medical students, pediatric and genetic residents, and graduate genetic counseling students is also a part of her duties. She has been actively involved in therapeutic research for PKU, lysosomal storage disorders, urea cycle disorders, and homocystinuria.


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