Olaf Bodamer, MD, PhD, Associate Chief of Genetics and Genomics at Boston Children’s Hospital, discusses his background.

As Dr. Bodamer explains, he started his career as a pediatrician, specializing in metabolism. His interest in genetic metabolic diseases initially led him into the rare disease space. He was invited to give a talk in Houston, Texas on in-born errors of metabolism, where he was encouraged by other physicians to do a fellowship in biochemical genetics at Baylor University. From there, he was introduced to different diseases, involved in newborn screening, and worked to shorten the diagnostic journey for these rare genetic diseases. Eventually, he was recruited by Boston Children’s Hospital where he is currently. 

At Boston Children’s, Dr. Bodamer sees patients with a wide range of rare genetic and metabolic diseases. He was also able to start a lab through Boston Children’s. Currently, the Bodamer Lab is focused on Kabuki syndrome and Niemann-Pick Type C, both rare neurodevelopmental disorders. This lab is also running the first gene therapy trial for phenylketonuria (PKU).

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