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New genetic database analysis finds that Fabry disease may be three times more prevalent than current estimates suggest, uncovering a large under-served patient community
Fabry disease is a rare genetic X-linked disease caused by pathogenic genetic variants in the GLA gene. As with other rare genetic conditions, of which there are thought to be over 7000, accurately determining the prevalence of Fabry disease is challenging. Using HealthLumen’s genetic database mining methodology, our recent study suggests that Fabry disease prevalence in the US may considerably exceed previous estimates.
