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Once Upon A Gene

Once Upon A Gene

GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman

Once Upon A Gene · May 1, 2025 · 32:49

0:0032:49

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In this episode of Once Upon a Gene, I’m joined again by rare mom and powerhouse advocate Gay Grossman. Gay works at GeneDx—home to one of the largest clinical genomic databases—and she’s here to share two exciting updates that could change everything for rare families and patient advocacy orgs.

We talk about:



GeneDx’s new commitment to the cerebral palsy community and why every CP diagnosis deserves a genetic test




How families can access exome and genome testing through telehealth




The launch of the Discover Snapshot, a tool designed to help rare orgs find, understand, and grow their communities using real genomic data




We also dive into why many CP, autism, and epilepsy diagnoses are just the beginning—and how getting to the root cause can open doors to treatments, clinical trials, and life-changing connection.


🔗 Resources & Links:



Request your Patient Count or Discover Snapshot: advocacy@genedx.com




Learn more about genetic testing and CP: GeneDx.com




Access testing through Genome Medical: Genome Medical






Key Topics:



Genetic testing access and equity




Ending the diagnostic odyssey for CP




Empowering patient advocacy orgs with data




How to use genetic diagnoses to unlock treatment options




The power of community and connection

Episodes: Once Upon A Gene

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