Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the U.S. National Institutes of Health. “We at NCATS have decided that we have real problems with the word ‘rare.’ The public health implications of rare diseases are poorly understood but profoundly important,” said Austin, speaking at the recent 2019 World Orphan Drug Congress USA in Oxon Hill, Md. “There are currently 7,000 rare diseases, 80% of them genetic, and 250 new ones identified every year,” he continued. “Together, they have the same prevalence as type 2 diabetes — about 8% of the population — yet I would bet no more than one in 1,000 people on the street know that.” Austin pointed out that the definition of “rare” varies by country. The U.S. Food and Drug Administration classifies a disease as rare if it affectsfewer than 200,000 Americans. In Japan, it’s fewer than 50,000 patients, and in Europe, the Amsterdam-based European Medicines Agency says a disease is “rare” if it affectsnot more than one in 2,000 people. “Because of the difficulties in coding these diseases, those costs are largely invisible to the actuaries who look at our healthcare system,” he said. “With diabetes and Alzheimer’s, you can come up with a number, a prevalence and a cost, and compare that to age-matched populations. We cannot do that for the vas
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