Kirk Lamoreaux, Senior Healthcare Strategist, discusses ‘The Power of Being Counted,’ a report that was recently announced an estimated 10,867 rare diseases are known.
As Mr. Lamoreaux explains, ‘The Power of Being Counted’ was developed by RARE-X to determine a more accurate count of the actual number of rare diseases. Determining this number is difficult, largely due to the lack of a global definition for rare disease. Getting an accurate count is important in order to represent the full spectrum of the rare disease community and describe the true socioeconomic impact on the lives of patients, families, and society.
For many years, it was believed that there are 5000-8000 rare diseases; however, this new report found there are as many as 10,867. This means that for years policymakers have been using incomplete or inaccurate information and have thus allocated insufficient resources. This low estimate also has also undermined advocates who have sought regulatory changes.
The 10,867 estimate was largely based on combining information from databased in The Online Mendelian Inheritance in Man (OMIM.org) and Orphanet (orpha.net), although many other databases were consulted as well. For a free copy of the report, click here.
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