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Investigating the Mysteries of Rare Diseases

Marshall Summar, M.D.

Laboratory research at Children’s National Hospital has a tangible impact on families. Our bench to bedside approach for babies born with urea cycle disorders is a prime example. “As soon as they’re separated from their mother’s system, ammonia builds up and becomes toxic within hours,” says Dr. Marshall, director of our Rare Disease Institute and chief of the Division of Genetics and Metabolism. A device he invented enables doctors to identify this dangerous disorder sooner and save lives.

Ten years ago, Dr. Summar was a tenured professor at Vanderbilt University in Nashville. “But what I wanted to do was to build this new field of rare disease medicine in pediatrics and it could only be done at Children’s National,” he says. “In the nation’s capital, we integrated with the federal agencies, national organizations and ushered in a new spirit of entrepreneurialism in pediatrics with an attitude of ‘let’s see what we can get done.’”

Dr. Summar and his team have accomplished a great deal since the institute opened in 2017. In the 1980s, he says clinicians in this field could diagnose fewer than 20 diseases. Now, they can diagnose more than 8,000 diseases with certainty with treatments for more than 600 conditions.

“My patients have always been my best teachers,” Dr Summar says. “Given the complexity of genetics, almost every patient—whether they’re diagnosed with cancer, asthma or a rare disease—has a unique form of their disease. Their families are the experts.” He also credits the Institute’s intrepid team of geneticists, genetic counselors, biochemical nutritionists and case coordinators. In 2021, the Institute will expand into new research facilities at our new Research & Innovation Campus.

“Research in this field is a combination of solving puzzles and biological complexities,” notes Dr. Summar. “It also about working with some of the most wonderful families and clinicians you could ever meet.”