They Escape Notice, but ‘Rare’ Diseases Are Anything But. Nearly 8% of the world’s population — 350 million people — have a rare disease. But diagnosis and treatment are advancing.
by Chris Adams, National Press Foundation
The number of rare diseases is constantly in flux. The conventional estimate that there are 7,000-10,000 rare diseases in the human population is outdated. And without more accurate tracking, patients suffer. Scientists discover more diseases and refine their understanding of existing ones all the time, said Melissa Haendel of the University of Colorado Anschutz Medical Campus. “We identify, but we don’t ever update the number,” Handel said. New rare diseases are discovered every week by organizations such as the Undiagnosed Disease Network in the United States and many other similar programs throughout the world. A related problem is that scientists don’t define or identify various diseases in the same way. Dozens of terminologies and disease registries exist, and each has its own identifier system or strategy for describing them. Rare diseases are often not included in standard clinical terminologies such as the International Classification of Diseases. “Better counting of rare diseases will lead to better patient outcomes,” Haendel said.
Speaker: Melissa Haendel, Chief Research Informatics Officer, University of Colorado Anschutz Medical Campus; Director, National Center for Data to Health
This program is sponsored by Fondation Ipsen. NPF is solely responsible for the content.
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