Make Mine Rare

With mounting interest from biotechs, Big Pharma, and the federal government, research on rare diseases is burgeoning.

Written byMegan Scudellari
| 7 min read

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Researchers at the Basel, Switzerland, branch of the Novartis Institutes for BioMedical Research develop therapies for rare diseases, then work to extend those treatments to more common aliments.COURTESY OF NOVARTIS

A rare, or orphan, disease is one that afflicts fewer than 200,000 individuals in the United States, according to the National Institutes of Health. But with an estimated 7,000 rare diseases affecting more than 30 million Americans and some 250 million people worldwide, rare diseases as a group are not, despite their name, rare.

“Look around the grocery store tonight when you’re coming home from work, and you’ll surely see somebody who has a rare disease,” says Mike Diem, director of business development for rare diseases at GlaxoSmithKline (GSK). “And most of those diseases don’t have any approved drug for them.”

Today, that paucity of treatments is about to be remedied, thanks to an influx of interest and money from big pharmaceutical companies like GSK, ...

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