Sherlock Holmes and the Orphan Disease

Where do patients with undiagnosed diseases go when all other options are exhausted? Not House’s team of diagnosticians, but the next best thing – the Undiagnosed Diseases Program at the National Institutes of Health (NIH). The NY Times reports that the program has made its first diagnosis of a new disease, giving a family suffering from a rare vascular condition a diagnosis, and with it, some hope:

“Patients who have rare diseases are often abandoned by the medical community,” Dr. Gahl said. “We don’t know how to treat if we don’t have a diagnosis. The way our society treats abandoned individuals is a measure of our society. It speaks to how our society treats the poorest among us.”

With Ms. Benge and her siblings, the researchers have their first newly discovered disease. It is caused, they report on Thursday in The New England Journal of Medicine, by a mutation in a gene that prevents calcium from depositing in blood vessels.

NIH sleuths have redefined the way that orphan diseases are researched, but even the entertainment industry is impacting awareness. Scope reports that while shows like Grey’s Anatomy and House are increasing the visibility of rare conditions, they also bear the responsibility of properly representing diseases (and their sufferers) in the public view.

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