In this new episode, Dr. Lauren focuses on the diagnostic odyssey of getting a genetic diagnosis with Drs. Ame Shillington and Sheldon Garrison. Dr. Shillington is a clinical geneticist and assistant professor from Cincinnati Children’s Hospital Medical Center. Dr. Garrison is Research Scientist at Rogers Behavioral Health who is on our Scientific Advisory Committee.


Did You Know!?

  • The average delay from initial concern to genetic diagnosis of rare disorders like Phelan-McDermid syndrome is over 9 years!
  • Of individuals who receive a genetic diagnosis due to neurodevelopmental concerns, approximately 90% see improvement in their treatment management and care after receiving the diagnosis! 


Tune in to hear more about the research behind the delayed diagnosis of rare genetic disorders like Phelan-McDermid syndrome, and what each is doing to help reduce this delay and increase access to genetic testing! 


Check out the papers mentioned in the podcast below to learn more:

Dr. Sheldon Garrison: https://pubmed.ncbi.nlm.nih.gov/40750893/ 

https://pubmed.ncbi.nlm.nih.gov/40252994/


Dr. Ame Shillington: https://pubmed.ncbi.nlm.nih.gov/37642312/ 

https://pubmed.ncbi.nlm.nih.gov/35769998/


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