EPISODE · Jun 7, 2022 · 37 MIN
The Power of Being Counted
from RARE-X · host RARE-X
For more than a decade, governments, nonprofits, and industry organizations involved in rare disease have stated as a matter of fact that there are 7,000 rare conditions or estimated the number to be between 5,000 to 8,000. The sources of these estimates are challenging to identify, given the circular nature of citations among groups repeating these figures. What’s more, these estimates have remained static even though nearly 300 new rare genetic diseases are added to principal knowledge bases each year. In an effort to develop a true count of rare conditions, RARE-X recently completed a research project that found the actual number is approaching 11,000. We spoke to research lead and Alexion Senior Director of Data Science Sebastien Lefebrve, Vice President of Patient Experience for Alexion Wendy Erler, and RARE-X CEO Charlene Son Rigby, about the new paper “The Power of Being Counted, the significance of its findings, and what the implications are for patient communities. An editor’s note: since recording this podcast, the authors of the RARE-X study have updated their work and revised the total number of rare diseases they identified to 10,867.
What this episode covers
For more than a decade, governments, nonprofits, and industry organizations involved in rare disease have stated as a matter of fact that there are 7,000 rare conditions or estimated the number to be between 5,000 to 8,000. The sources of these estimates are challenging to identify, given the circular nature of citations among groups repeating these figures. What’s more, these estimates have remained static even though nearly 300 new rare genetic diseases are added to principal knowledge bases each year. In an effort to develop a true count of rare conditions, RARE-X recently completed a research project that found the actual number is approaching 11,000. We spoke to research lead and Alexion Senior Director of Data Science Sebastien Lefebrve, Vice President of Patient Experience for Alexion Wendy Erler, and RARE-X CEO Charlene Son Rigby, about the new paper “The Power of Being Counted, the significance of its findings, and what the implications are for patient communities. An editor’s note: since recording this podcast, the authors of the RARE-X study have updated their work and revised the total number of rare diseases they identified to 10,867.
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The Power of Being Counted
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