Why Study Rare Diseases?

The Washington Business Journal recently asked Dr. Marshall Summar, division chief of genetics and metabolism at Children's National, about a question he frequently hears: "Why do you study rare diseases when they affect so few children?" His answer is simple: because many of the children and families he sees in the genetics clinic have no answers, and nowhere else to turn. There are more than 7,300 rare diseases, which affect an estimated 18 million to 30 million Americans. About 80 percent of these diseases have a genetic origin, and about half affect children. Learning more about rare diseases often leads to findings that improve treatment for more common conditions, Dr. Summar said. When using an amino acid to treat a child with a rare condition called urea cycle disorder, doctors discovered a gene related to problems with pulmonary blood pressure. That finding showed doctors that they could use that amino acid helped reduce the risk of problems with pulmonary blood pressure after a child had surgery. Philanthropy is critical to studying these diseases, because they don't get the attention or funding that more common conditions get. “While we’re trying to treat [these children], they are some of the best teachers that we have," Dr. Summar said. “People say, 'Why study rare diseases?' This is why.” Read "Why Children's National Medical Center is Putting So Much Money into Studying Rare Diseases."