Pediatric Genetic/Metabolic Disorders Pediatric Genetic/Metabolic Disorders

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Introduction

The field of medical genetics encompasses all conditions with a basis in DNA. Approximately 10,000 genetic disorders have been identified, affecting every organ system, and likely many more have yet to be characterized. You are liable to encounter children with genetic conditions while rotating in any pediatric clinic or on any inpatient floor. While rotating on a genetics service, you will participate in the diagnosis, management, and counseling of patients and families affected by genetic conditions. Many such conditions constitute metabolic disorders.

This rotation guide covers the following topics: 

 

This rotation guide was developed by a collaborative team of contributors including:
Writer: Philip Boone, MD
Peer Reviewers: Monica Wojcik, MD; Nina Gold, MD; William Brucker, MD
Editors:  Amy Roberts, MD (Section Head)
Senior Editor: Julie Ingelfinger, MD

Last updated April 2018
  • Amy Roberts, MD's avatar
    Amy Roberts, MD

    Amy Roberts, MD, is a medical geneticist in the Cardiovascular Genetics Clinic at Boston Children’s Hospital, where she is also Co-director of the Combined Pediatrics and Genetics Residency Training Program and Director of the Cardiovascular Genetics Research Program.  She is Assistant Professor of Pediatrics at Harvard Medical School.