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Podcast: Future Science Group
Episode: Whole-genome-sequencing: navigating the "Diagnostic Odyssey" in rare disease research
Description: Rare diseases present a series of challenges on numerous fronts. From simply deciphering what a patient is affected by to considering how best to manage a rare condition with limited pre-existing medications available for a rare disease, each new development or breakthrough brings clinicians to a new question. While these conditions are, in isolation, rare; in total rare diseases impact 25-30million people in the USA alone.
Supported by Psomagen and featuring four fascinating guests from across the spectrum of topics and focuses in the rare disease space, this episode explores the updates to whole-genome sequencing technology that have improved...