Editor's Note: A disease is considered rare in the United States if it affects fewer than 200,000 people. Collectively, however, rare diseases are believed to affect 1 in 10 people, and they can present at any stage of life.
It's impossible for front line clinicians to keep up to date on the thousands of known rare diseases, so they depend on experts such as Marshall L. Summar, MD, Chief of the Division of Genetics and Metabolism at Children's National Medical Center in Washington, DC, to help zero in on the possible cause when a patient -- whether it is a newborn or a nonagenarian -- presents with symptoms that suggest a rare disease.
Medscape recently spoke with Dr. Summar about advances in the diagnosis and management of rare diseases, and how clinicians can approach these patients and access the assistance of rare disease experts -- medicine's "puzzle-solvers."
Read Part 2 of this interview here.
Marshall L. Summar, MD
Greatest Recent Advances in Rare Diseases
Medscape: You have worked in the field for a long time. What advances do you believe are responsible for having the greatest impact on progress in identifying and treating inborn errors of metabolism (IEMs) and other rare diseases?
Dr. Summar:First and foremost has been the expansion in newborn screening, from the very good Guthrie test to the more expanded tandem mass spectroscopy test.
