The Diagnostic Odyssey: Delays in Diagnosing Phelan-McDermid Syndrome

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The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope

Phelan-McDermid Syndrome Foundation

30 episodes

3 days ago

Stay up-to-date on the cutting edge of science and medicine in the Phelan-McDermid syndrome field! Dr. Lauren Schmitt, the Chief Science Officer of the Phelan-McDermid Syndrome Foundation (PMSF), sits down with top experts driving groundbreaking research, treatment, and care. These engaging conversations deliver the latest breakthroughs in a way that's easy to understand, keeping our PMSF community informed and empowered. You won't want to miss this!

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Life Sciences

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The Diagnostic Odyssey: Delays in Diagnosing Phelan-McDermid Syndrome

The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope

34 minutes 13 seconds

3 months ago

The Diagnostic Odyssey: Delays in Diagnosing Phelan-McDermid Syndrome

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/