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Massachusetts Medical Society's Physician Focus

March 2012

Rare Diseases


  • The Orphan Drug Act, passed by the U.S. Congress in 1983, defined an “orphan disease” as one that affects fewer than 200,000 people in the U.S. Some conditions afflict several thousand, some only a handful.

  • Approximately 7,000 rare diseases exist, reaching a total of approximately 30 million people. Roughly one in ten Americans has a rare disease.

  • About 80 percent of rare diseases are genetic disorders. Others may be caused by environmental factors like toxins, and some by infectious diseases, passed along by animals.

  • Genetic advances made in recent years are the result of focusing on patients with rare conditions and have led to new therapies for these diseases as well as those that can be applied to more common disorders.

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The Orphan Drug Act, passed by the U.S. Congress in 1983 to support and encourage companies developing therapies for rare conditions, defines a rare disease as one that affects fewer than 200,000 individuals. Some conditions may affect a few thousand people; some, just a handful.

In one sense, however, rare diseases aren’t that rare.

The collective impact of the more than 7,000 estimated rare conditions is enormous: Some 30 million people, or roughly one in ten Americans, are affected by a rare disease. Put in perspective, that’s more than the nearly 26 million people with diabetes, one of the most prevalent and expensive chronic conditions facing American citizens and our health care system.

“Rare diseases affect anybody and everybody,” says Alan Beggs, Ph.D., director of the Manton Center for Orphan Disease Research at Children’s Hospital Boston. “Some of them may affect certain ethnic groups, some of them may affect people that are exposed to certain environmental insults. But by and large, a rare disease can affect anybody – men, women, children, adolescents, adults, people regardless of race, creed or color - and they affect people equally throughout the world.”

Dr. Beggs is also the Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School. He earned his Ph.D. in human genetics at Johns Hopkins University and then completed postdoctoral fellowships in medical genetics at Johns Hopkins University and in clinical molecular genetics at Harvard Medical School. He has directed the Manton Center since its founding in 2008 and has been at Children’s Hospital since 1992.

He presented an introduction into the various aspects and research of rare diseases in the March edition of Physician Focus, with host John Fromson, M.D., Associate Director of Postgraduate Medical Education at Massachusetts General Hospital.

Finding out about rare diseases isn’t as difficult as in previous years, says Dr. Beggs. “With the internet, much better communication, and extensive medical publishing, it’s a lot easier to find out about rare diseases.” Today’s social media tools have also allowed individuals and families to reach out for help, to connect with one another, and to establish support groups for people with rare conditions.

As one who has devoted his professional life to biological research and as the director of a center dedicated to research in orphan diseases, Dr. Beggs knows the importance of research in rare diseases cannot be overstated.

“Everybody who has a rare disease,” he says, “is affected by a potentially serious and life-threatening condition, so for them and their family members it is critical to make medical progress and help develop treatments, therapies, and, one day, hopefully cures. So we have a moral imperative to help these individuals.”

But there are many more reasons to engage in research, he says. “Many of these diseases are genetic conditions, and a lot of the genetic advances that have been developed over the past years have been developed through studies focused on patients with rare conditions. And learning something about these rare diseases often will tell us something about much more common conditions.”

Dr. Beggs recommendation for those patients and families confronting a rare condition is clear and direct. “Take control and take charge,” he urges. “Go look for information, ask your doctors, and don’t be afraid to contact physicians and researchers.”

His outlook for caring for those with rare conditions is also positive: “Through the research and discoveries we’ve made,” he says, “we’re finally starting to turn the corner into developing therapies, treatments, and eventually, cures.”

Watch the accompanying video for the full discussion, which includes conversation about the Human Genome Project and why it is important, the work of the Manton Center for Orphan Disease Research at Children’s Hospital Boston, and how families coping with rare diseases benefit from the work of such centers and how research centers in turn benefit from patients and their families.

MMS/Richard Gulla

NIH Office of Rare Diseases Research

National Organization for Rare Disorders

The R.A.R.E. Project

The Manton Center for Orphan Disease Research at Children's Hospital Boston

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Rare Diseases PSA

From left: John Fromson, M.D.,
Alan Beggs, Ph.D.
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