Genetics and Metabolism Division of Children's National Health System

This is a collaboration between the Genetics and Metabolism Division of Children's National Health System in Washington D.C. and Medscape Rare Diseases. The interviews, commentaries, cases and articles in this series are designed to provide accurate analysis, updates and guidance for all practicing clinicians.

Latest Features

  • The Future Is Now   Drs Summar and Wamhoff discuss novel new technologies to advance our understanding of rare diseases.
  • Commentary: The Right Way to Use Noninvasive Prenatal ‘Tests’ When giving prenatal tests, leaving the counseling to genetic counselors will ultimately benefit your practice and your patients.
  • Creating Human Tissues to Test Drugs for Rare Diseases   Skip the mice. This technology will allow scientists to predict how drugs will act in human tissues -- a boon to the rare diseases community, which has too few human subjects for testing new drugs.
  • What Is a Rare Disease, Exactly?   Marshall Summar defines 'rare disease' and explains how the field is evolving into personalized medicine for everyone, not just children.
  • Expanded Genetic Testing in the Real World Marshall Summar talks with Brendan Lanpher and Sean Hofherr about the practicalities of expanded genetic testing, and the all-important question: Who should be using it?
  • The Expanding Field of Genetics in Pediatric Cardiology Marshall Summar talks with clinical geneticists Kim Chapman and Patroula Smpokou about how genetics are guiding therapy in pediatric heart disease.
  • Rare Diseases: From Newborns to Nonagenarians Dr. Marshall Summar advises clinicians to have low thresholds for suspecting rare diseases, and for asking for help when they do.


Children's National Health System is dedicated to providing the best pediatric care for its patients, families, and community in the Washington D.C. metropolitan area and beyond. The Genetics and Metabolism Division is the largest of its kind in North America. The division is home to world-renowned clinicians treating over 7500 rare disease patients in 2013 with local and global clinics. The team includes genetic counselors, nutritionists, and geneticists and specializes in taking on the most complex rare disease cases. The division focuses on bench to bedside research as well, working with patient groups, pharmaceutical companies, and research scientists to develop novel treatments for rare diseases.