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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.
Request your Patient Count or Discover Snapshot: [email protected]
Learn more about genetic testing and CP: GeneDx.com
Access testing through Genome Medical: Genome Medical
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
By Effie Parks5
277277 ratings
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.
Request your Patient Count or Discover Snapshot: [email protected]
Learn more about genetic testing and CP: GeneDx.com
Access testing through Genome Medical: Genome Medical
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

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